CNRS patent portfolio related to Rare and Genetic Diseases

Size: px
Start display at page:

Download "CNRS patent portfolio related to Rare and Genetic Diseases"

Transcription

1 CNRS patent portfolio related to Rare and Genetic Diseases V - 02/07/2013

2 Patents list for licensing opportunities Our Reference : Main Inventor : BRIAULT Title : Use of a BKCa opener as a treatment of Fragile X-Syndrome and KCNMA-1 related autism MASCHAT New therapeutic peptide for Huntington s Disease LUGNIER Use of Adenine-derived compounds for the treatment of Systemic Lupus Erythematous (SLE) BERTOLOTTI Use of Guanabenz derivatives for the treatment of Huntington s Disease POTIER DODD LEFEBVRE New Treatment of Cognitive Impairment in Down Syndrom UPCOMING TECHNOLOGY Novel DYRK1A inhibitors for the treatment of Alzheimer s Disease or Down Syndrom UPCOMING TECHNOLOGY Use of Calcium Channel Blockers for the Treatment of Spinal Muscular Atrophy BECQ Treatment of Cystic Fibrosis with Paullone Derivatives LEFEBVRE Peptide for its use in the treatment of Motor Neuropathies MARI Use of mir-199a-5p, targets and/or inhibitors thereof for the diagnosis, prognosis and treatment of fibroproliferative disorders BLONDEL Compounds for the treatment of mitochondrial diseases V - 02/07/2013

3 Use of a BKCa opener as a treatment of Fragile X-Syndrome CONTEXT Fragile X-Syndrome (FXS) is the most common cause of inherited mental retardation and affects 1 in every 2000 men and 1 in every 4000 women, together representing nearly 500,000 persons in Europe and USA. This disease is caused by the expansion of a single trinucleotide gene sequence (CGG) on the X-chromosome, and results in a failure to express the protein coded by the FMR1 (Fragility Mental Retardation 1) gene. In normal individuals, FMR1 is a RNA-binding protein that is believed to regulate the transcription and translation of a substantial population of mrna, and it plays important roles in learning and memory. It also appears to be required for normal neural development since it is involved in development of axons, formation of synapses, and the wiring and development of neural circuits. Its mutation leads to its silencing, and results in a spectrum of characteristic physical and intellectual limitations, as well as emotional and behavioral features which range from severe to mild in manifestation. To date, there is no cure for the Fragile X-Syndrome and current therapeutic strategies rely on behavioral therapy, special education, and when necessary, treatment of physical abnormalities. TECHNICAL DESCRIPTION It has recently been shown that the silencing of FMR1 is leading to a 50% reduction of the level of KCNMA1, the sub-unit of the large-conductance Ca2+ and voltage-activated K+ (BKCa) channel (Liao et al., PNAS 2008). BKCa channels have a tetrameric structure, each monomer of the channel-forming alpha subunit being the product of the Kcnma1 gene, and this reduced level of KCNMA1 protein results in a fonctional impairment of the channel activity. BKCa channels are expressed in almost every tissue in our body and participate in many critical functions such as neuronal excitability, determination of action potential duration and frequency, neurotransmitter release and vascular tone regulation. BMS Our Reference N DI Keywords Fragile X syndrome, BKCa, mental retardation, fluoro-oxindole Status of Patent Priority patent application n EP filed on June 27, 2011 entitled " Compositions for the treatment of the Fragile X syndrome " PCT/EP/ filed on June 27,2012 Inventors Sylvain BRIAULT, MD, PhD Olivier PERCHE, PhD Commercial Status Collaborative agreement, Exclusive license, Option Laboratory Laboratory of Molecular Immunology and Embryology, a CNRS- Université d Orléans laboratory (UMR6218) in Orléans, France. Using the BKCa channel opener BMS204352, the inventors have been able to restore a normal BKCa channel activity in a FXS patient cell culture in a similar manner than what they observed in lymphoblastoid cultures of an autistic patient with a de novo 9q23/10q22 translocation (Laumonnier et al. Am J Psychiatry 2006). In addition, they showed that BMS restores dendritic spines maturation of Fmr1 KO neurons (4h treatment). Working with fmr1-ko mice, the FXS animal model, Dr Briault and Dr Perche have now shown that BMS allows behavioral recovery in a surprisingly efficient manner when administered in 1 injection i.p 2mg/kg: - Direct social interaction test showed a wild-type social interaction phenotype, - Social preference test showed a wild-type social preference phenotype, - Elevated plus-maze test showed a wild-type level of anxiety, V - 02/07/2013

4 - Y-maze test a wild-type spatial recognition (work memory). The quantification of cerebral metabolites (hippo/cortex) using Magnetic Resonance Spectroscopy (MRS) demonstrated that BMS (1 injection i.p 2mg/kg) restores the normal synaptic function. DEVELOPMENT STAGE Interestingly, BMS has been clinically developed by Bristol-Myers Squibb up to Phase III before it failed to improve stroke s issue, and therefore has an excellent ADMET profile (the whole regulatory package, results and samples have been obtained from BMS). The molecule is now free to operate. The research team is now strengthening preclinical data and setting up a clinical trial. As a medical geneticist, Dr Briault has established close relationships with hospitals and with French and international patient associations that are active in the field of Fragile-X syndrome research and support and/or collaborate to his action. An orphan drug designation filing is ongoing. CNRS is willing to collaborate with and license this patent to a pharmaceutical company, preferably experienced in the clinical development and marketing of rare disease treatment, to achieve the development of this drug. Indeed more than 1,5 million people may receive this life-long treatment, with a possible indication extension to all mental retardation associated with BKCa anomaly. V - 02/07/2013

5 New therapeutic peptide for Huntington s Disease CONTEXT Huntington's disease (HD) is a neurodegenerative genetic disorder that usually becomes noticeable in middle age. It affects muscle coordination and provokes cognitive decline and dementia. HD is caused by an autosomal dominant mutation of a gene called Huntingtin (Htt) leading to an abnormal repeat number of the amino acid Glutamine (Q) in the protein (PolyQ-Htt). This mutant form of the protein has altered activities and is prone to form protein aggregates. It is toxic to certain types of cells, especially in the brain where neurons are particularly affected. There is at the present time no cure for HD, and the available treatments aim at reducing the severity of some of its symptoms. TECHNICAL DESCRIPTION One therapeutic strategy that is explored is the prevention of aggregates caused by the polyq domain in mutant Huntingtin. The invention is based on the discovery published in 2008 that the aggregation of PolyQ-Htt may be prevented by its wild-type counterpart. Considering the size of the wild-type protein, around 600 amino acids, the inventors have looked for smaller but still active peptides isolated from Htt. One of them, pep42, turned out to be particularly interesting. BENEFITS The small size of the peptide is more appropriate for a use as a therapeutic compound than the Htt whole protein, while it retains its full anti-aggregates activity. Wild-type HD Model (-) (+ pep42) Phenotype rescue in a Drosophila HD model Our Reference Keywords Huntington s Disease, Peptide, Gene therapy Status of Patent Priority patent application n FR filed on April 12, 2011 entitled "Composés thérapeutiques contre la chorée de Huntington" Inventors Florence MASCHAT, Marie-Laure PARMENTIER, Nathalie BONNEAUD, Yoan ARRIBAT Commercial Status Exclusive or nonexclusive licenses, Option agreement, Collaborative agreement Laboratory Institut de génomique fonctionnelle, a CNRS laboratory (UMR 5203) in Montpellier, France. Institut de génétique humaine, a CNRS laboratory (UPR 1142) in Montpellier, France. INDUSTRIAL APPLICATIONS This peptide may be used as a treatment of HD, alone or in combination with other strategies, and administered as a peptide alone or integrated in a lentivirus allowing its expression. DEVELOPMENT STAGE In vitro and in vivo data have been obtained and are still in progress. Vectorisation strategies for the peptide are studied. In particular, its fusion with the TAT penetrating sequence has been very efficient to allow its tranbsport trough the blood-brain barrier. This work is financially supported by the programme Emergence of high potential products or services of the Agence Nationale pour la Recherche. V - 02/07/2013

6 PUBLICATION A huntingtin peptide inhibits polyq-huntingtin associated defects. Arribat Y, Bonneaud N, Talmat-Amar Y, Layalle S, Parmentier ML, Maschat F. PLoS One Jul 4;8(7):e V - 02/07/2013 For further Information please contact: FIST SA 83, Bd Exelmans PARIS France Tel: +33 (0) Fax: +33 (0)

7 USE OF ADENINE-DERIVED COMPOUNDS FOR THE TREATMENT OF SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) RARE DISEASE CONTEXT Since the eighties, we have been collaborating with JJ Bourguignon (University of Strasbourg) performing structure-activity relationships on purified PDE1 to PDE5 (based on rolipram and trequinsin structures) to conceive specific PDE4 inhibitors (>1000 original compounds) and we have studied PDE implications in intracellular signalling in cardiovascular function and more recently in angiogenesis. Some findings were patented by Neuro3D/CNRS/University and lastly sold to Via Pharmaceuticals Inc., San Francisco, U.S.A. Among the not patented and optimized PDE4 inhibitors compounds, we have studied NCS 613 and its analogues as anti-inflammatory drugs. Therefore, in collaboration with Sylviane Muller, we established adenine analogues, and in particular NCS 613, as promising treatment for systemic lupus erythematosus (SLE) a rare diseases. Our latest results have shown encouraging in vivo effects on a mouse model. TECHNICAL DESCRIPTION SLE is a rare disease with a high polymorphism and multiple origins. The invention relates to the use of adenine-derived compounds, for the treatment of SLE. These original compounds are specific and potent inhibitors of the PDE4 family enzymes which are implicated in inflammation. They can also be used in combination with a non steroid antiinflammatory compound, a synthetic antimalarial compound, a corticoid compound or an immunosupressor. BENEFITS NCS 613 is an adenine-derived molecule of low molecular weight (pka<1.7, Log D7.4=3.78±0.03) that is active in vivo per os. This compound, given i. p. (30 µg/mouse, i.e. 1.5 mg/kg), protects mice from lupus disease progression (PlosOne 2012,) by decreasing proteinuria, anti-double stranded DNA antibodies and TNFα secretions and protecting kidney from nephropathy in which renal PDE4 activity is significantly increased when compared with control animals. Consequently, NCS 613 increases significantly the survival rate of MRL/lpr mice (SLE model) (p<0.005, in comparison with non treated mice). Furthermore, this compound decreases ex vivo basal and LPS-induced TNFα secretions from SLE and rheumatoid arthritis (RA) patient PBMCs. INDUSTRIAL APPLICATIONS The application of this invention concerns a drug for the treatment of SLE. The etiology remains elusive and the manisfestations are polymorphic classifying each form in the categoty of rare diseases. Currently, no specific treatment exists. An average of out of people is affected by SLE each year among northern Europeans to more than 200 cases per 1,000,000 people among black people (Compared to an average of out of 100,000 people is affected by RA). Further, our results and patented technology broadens the use of our adenine analogues for the treatment of auto-immune diseases. V - 02/07/2013 Our Reference Keywords Lupus, adenine, drug in vivo Status of Patent French patent application N FR filed on March 6th, 2006 and entitled "Traitement du lupus érythémateux disséminé (LED) par les inhibiteurs de PDE4 published on September 7th 2007 under N WO published on September 13th, 2007 EP (granted) US (granted) CA (pending) JP (pending) Inventors Claire LUGNIER, Fanny MONNEAUX, Sylviane MULLER and Jacques BOURGUIGNON Commercial Status Exclusive or nonexclusive licenses Laboratory Biophotonique et Pharmacologie (second Research Unit), CNRS and University of Strasbourg (UMR7213), in Illkirch, France. For further Information please contact: FIST SA 83, Bd Exelmans PARIS France Tel: +33 (0) Fax: +33 (0)

8 DEVELOPMENT STAGE: Conceptual/ Pre-clinical data Clinical data Laboratory samples X In vitro assays : - NCS 613 is 12,380 fold more active than theophylline, 3214 fold more active than pentoxifylline and 18 fold more active than denbufylline as PDE4 inhibitor with an IC50 of µm toward camp degradation by vascular purified PDE4. - When compared to their effects on PDE5 activity (specific for cgmp and target for Viagra ), NCS 613 is 112 fold selective for PDE4, whereas theophylline similarly inhibits PDE4 and PDE5, pentoxifylline is 2 fold less potent on PDE4 and denbufylline is only 7 fold selective for PDE4. - NCS 613 is specific for PDE4C subtype 14 fold relatively to PDE4D, 30 fold relatively to PDE4A and 36 fold relatively to PDE4B. - NCS 613 is more than 100 fold less effective than rolipram on 3 H rolipram binding High Affinity Rolipram Binding Site (HARBS), indicating that this compound might have few adverse emetic effects. - NCS 613 (10 µm) inhibits by 70% antigen-induced histamine release by rat peritoneal mast cells, whereas rolipram (10 µm) decreases it only by 30%. - NCS 613 inhibits fmlp-stimulated arachidonate acid (IC50= 1.99 µm) and LPSstimulated TNF (IC50= µm) releases from human mononuclear cells. - NCS 613 (10 µm) decreases ex vivo basal and LPS-induced TNFα secretions from SLE, and RA and Sjörgren syndrom (SS) patient PBMCs. - NCS 613 (10 µm) exhibits anti-inflammatrory effects on PBMCs from lupus patients by inhibiting p38 MAPK and NFk-B signalling pathway while reducing proinflammatory cytokine production (Can J Physiol Pharmac 2013,91: ) In vivo assays : (efficacy assays (pre-clinical POC): ongoing tests lead optimization).. - NCS 613 dose dependently (1, 10 and 30 mg/kg per os) inhibits the recruitment of neutrophils in the bronchoalveolar lavage fluid of mice exposed to endotoxin via aerosol and inhibits antigen-induced broncho constriction in guinea pig (0.1, 1 and 10 mg/kg per os) with an ED50 of 0.23 mg/kg being 100 fold more potent than theophylline. - NCS 613 at 30 mg/kg i.v. in rat, in opposite to RP 73401, does not increase basal acid neither pentagastrin-stimulated acid secretion, suggesting that NCS 613 may produce fewer gastrointestinal side effects than second-generation PDE4 inhibitors. - NCS 613 given 3 times every 2 weeks and the last time 4 weeks later to 5 week-old MRL/lpr mice (at 30 µg/mouse i.e. 1.5 mg/kg i.v.) significantly protects against SLE disease progression by decreasing proteinuria, anti-double stranded DNA antibodies and TNFα secretion and potently increases the mouse survival rate (at 30 weeks, 50% of NCS 613 treated mice were still alive, p<0.005) in comparison with non treated mice, whereas the survival rate of mice treated with pentoxifylline (100 µg/mouse) or denbufylline (100 µg/mouse) was not significantly changed. Toxicity data : NCS 613 given by i.v. at 1 µg or 10 µg, 3 times every 2 weeks, to BALB/c mice which were observed for 40 days, did not induced either weight changes or lung, kidney, liver and V - 02/07/2013

9 spleen alterations. Next development steps : - Rat LD50 and pharmacokinetics - Emetic test on ferret, PK and ADM in primates (Centre de Primatologie de Strasbourg) V - 02/07/2013

10 Use of Guanabenz Derivatives for the Treatment of Huntington s disease CONTEXT The prevalence of Huntington s disease (HD) is estimated to 3-7 per 100,000 people in western Europe. HD is caused by a faulty gene on chromosome 4. This gene produces a protein called Huntingtin and leads to a damage of the striatal neurons. The progressive degeneration of these neurons causes gradual physical, mental and emotional changes. At this time, there is no way to stop or to reverse the course of HD. HD is characterized by expansion of CAG codons translated in polyglutamine (polyq) and causes aggregation of the affected protein. The aim of the invention concerns non toxic compounds capable of treating polyglutamine expansion associated diseases. TECHNICAL DESCRIPTION The present invention relates to chlorine Guanabenz derivatives (inhibitors of aggregated proteins) for treating Huntington s disease and other polyglutamine expansion associated diseases. More specifically, it relates to the use of the molecule of formula (I) wherein R=H or Cl and the phenyl group is at least substituted twice, or a pharmaceutically acceptable salt thereof, for the manufacture of a medicament for treating polyglutamine expansion associated diseases. Guanabenz and Chloroguanabenz specifically reduce accumulation of a pathogenic fragment of Huntingtin in a transiently transfected cellular model of HD. Our Reference Keywords Chlorine Guanabenz derivatives; polyglutamine expansion associated diseases; Huntington s disease Status of Patent Priority patent application EP filed on October 4th, 2006 entitled «Use of chlorine Guanabenz derivatives for treating polyglutamine expansion associated diseases» International patent : WO published on April 10, 2008 Extended to EP, US, CA and JP Inventors Anne BERTOLOTTI and Marc BLONDEL Commercial Status Exclusive or non exclusive licenses BENEFITS Formula I Guanabenz is a drug already in clinic to treat hypertension. This invention makes it possible to develop a new application of the chlorine Guanabenz derivatives. Guanabenz is a novel drug candidate for Huntington s disease treatment. INDUSTRIAL APPLICATIONS The Guanabenz derivatives described in this invention promote clearance of mutant Huntingtin and this opens new applications in preventing or treating pathological of polyglutamine expansion associated diseases such as HD. Furthermore this invention will be more generally applicable to all protein misfolding diseases. The commercial applications and potential markets in such therapeutics are huge. DEVELOPMENT STAGE Information about the molecular mechanism by which Guanabenz enhances clearance of misfolded proteins is a prerequisite for clinical development. The inventors are exploring the pathway by which the Guanabenz increases the cellular capacity to degrade aggregation-prone proteins. Laboratory «Régulation de l expression génétique», UMR8541, Paris, France 23/04/2014

11 New Treatment for Cognitive Impairment in Down Syndrom CONTEXT Trisomy 21 (T21), or Down Syndrome (DS), is the most common form of intellectual disability in human. We consider that a population of about 1 million people in Europe and in the United States is concerned by this pathology. Currently in Europe the number of conceptions of children with DS increases with later age of motherhood, but less than 1/1000 child are born with DS, thanks to prenatal diagnosis. DS is characterized by variable degrees of cognitive impairment - including deficits in memory, learning capacity or both. While advances in teaching methods and a trend toward educational mainstreaming has led to an improvement in cognitive development in those who have DS, there remain constitutive impairments that cannot be fully addressed through pedagogic methodology alone. TECHNICAL DESCRIPTION Initially developed by Merck Sharp & Dohme for the treatment of Alzheimer s disease, GABA alpha5 inverse agonists are very promising for the treatment of Down Syndrom-related cognitive impairment. DEVELOPMENT STAGE The development is ongoing with MSD GABA alpha 5 inverse agonist. PUBLICATIONS Chronic Treatment with a Promnesiant GABA-A α5-selective Inverse Agonist Increases Immediate Early Genes Expression during Memory Processing in Mice and Rectifies Their Expression Levels in a Down Syndrome Mouse Model. Braudeau J et al. Adv Pharmacol Sci. 2011;2011: Epub 2011 Oct 19. Specific targeting of the GABA-A receptor α5 subtype by a selective inverse agonist restores cognitive deficits in Down syndrome mice. Braudeau J et al. J Psychopharmacol Aug;25(8): Epub 2011 Jun 21. Our Reference N DI Keywords Down syndrom, GABA R inverse agonist, Cognitive Impairment Status of Patent Priority patent application n US A61/236,625 and EP Composition and method for treating cognitive impairments in Down syndrome subjects filed on August 25, 2009 Inventors MC POTIER R DODD B DELATOUR J BRAUDEAU Y HERAULT Commercial Status Collaborative agreement, Exclusive license, Option Laboratory Centre de Recherches de l Institut du Cerveau et de la Moelle (CRICM) a CNRS laboratory (UMR7225) at the Pitié- Salpêtrière Hospital in Paris, France. 23/04/2014

12 Novel DYRK1A inhibitors for the treatment of Down Syndrome UPCOMING TECHNOLOGY CONTEXT Down syndrome (DS) is the most common genetic disorder with a frequency of 1 in 700 live births worldwide, and it is associated with an increased risk of Alzheimer s disease. DYRK1A is considered a pathogenic factor in Down syndrome and has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease brain. TECHNICAL DESCRIPTION The inventors have designed new azaindole-based Dirk1A inhibitors that demonstrate potent inhibitory activity against Dyrk1A and high affinity in ATP-binding site. In vitro evaluation and computer-guided molecular design were used to select the appropriate candidates. No cytotoxicity has been detected, and primary data obtained on wild-type and Down Syndrom model mice are very promising. This work is financially supported by the programme Emergence of high potential products or services of the Agence Nationale pour la Recherche. Our Reference Keywords Down s syndrome, Alzheimers, Kinase inhibitors, CNS Status of Patent French priority patent application to be filed in November 2012 Inventors Robert DODD Jean DELABAR Commercial Status Exclusive or nonexclusive licenses Laboratories Institut de Chimie des Substances Naturelles, a CNRS laboratory in Gifsur-Yvette, France. UMR4413, a Université Paris Diderot laboratory in Paris, France. 23/04/2014

13 Use of Calcium Channel Blockers for the Treatment of Spinal Muscular Atrophy CONTEXT Spinal muscular atrophy (SMA) refers to inherited neuromuscular disorders that are characterized by degeneration of spinal motor neurons leading to muscular weakness and atrophy. SMA is incurable to date and existing treatment remain unsatisfactory, thus although it occurs with a frequency of 1:10,000, it remains the most common fatal autosomal disease in infants. TECHNICAL DESCRIPTION Using a screening test based on the monitoring of SMN accumulation in Cajal Bodies of SMA fibroblasts, the inventors have shown that calcium channel blockers of the type phenylalkylamines were very efficient. In particular, flunarizine exhibited very promising results. This molecule is also known as SIBELIUM and is currently used for the treatment of pediatric migraine. DEVELOPMENT STAGE Flunarizine is currently tested on a mouse model of SMA. The results are expected on 2014 Q1. Our Reference Keywords SMA, Calcic Antagonist, Gene therapy Status of Patent Priority patent application n FR filed on September 19, 2012 entitled "Traitement des Neuropathies Motrices" Inventors Suzie LEFEBVRE, Kevinee KOOHBARRY Philippe BURLET Commercial Status Exclusive or nonexclusive licenses, Option agreement, Collaborative agreement Laboratory Institut de génomique fonctionnelle, a CNRS laboratory (UMR 5203) in Montpellier, France. Institut de génétique humaine, a CNRS laboratory (UPR 1142) in Montpellier, France. 23/04/2014

14 Treatment of Cystic Fibrosis with Paullone Derivatives CONTEXT Cystic fibrosis (CF) is a major inherited disorder affecting most critically the lungs, but also the pancreas, liver, and intestine. The disease affects arounf 70,000 people in the world, mostly of european anscestry. Several treatment exists but the lifetime of the patients remains shortened. Cystic fibrosis (CF) involves abnormalities of fluid and chloride and sodium electrolytes transport through epithelia due to mutation leading to abnormal function of cystic fibrosis transmembrane conductance regulator (CFTR) protein. Although there are over 1,000 mutations of CFTR proteins, the most common is delf508 that affects 70% of patients and causes the deletion of a phenylalanine at position 508. This mutation alters the folding of the protein. Therefore, although the delf508 CFTR could still be active as a chloride ion channel, it is no longer able to reach the membrane and is rapidly degraded. TECHNICAL DESCRIPTION The invention relates to the use of paullone derivatives for the treatment of cystic fibrosis, a family of compounds acting as CDK inhibitors and exhibiting antiproliferative activity. The inventors have shown that some paullone derivatives, especially kenpaullones, could act as activators of wild-type and mutant CFTR, and could induce the relocation of delf508 mutated CFTR to the plasma membrane in CF epithelial cells, thereby restoring its electrolyte transmembrane transport capacity. DEVELOPMENT STAGE A in vitro screening of paullone derivatives is ongoing and retained candidates will be validated on mice models of cystic fibrosis. Our Reference Keywords Cystic Fibrosis; paullone Status of Patent Priority patent of invention n FR filed in October 15, 2004, entitled: "Utilisation de dérivés de paullones pour la fabrication de médicaments pour le traitement de la mucoviscidose et de maladies liées à un défaut d adressage des proteines dans les cellules" PCT: WO National Phases: EP granted, US2008/ and CA Inventors Frédéric BECQ, Laurent MEIJER and Conrad KUNICK Commercial Status Exclusive or nonexclusive licenses Laboratory Institut de physiologie et biologie cellulaires (UMR6187), Poitiers, France. 23/04/2014

15 OTHER TECHNOLOGIES: 1- Dr MARI s invention, ref /BS: Use of mir-199a-5p, targets and/or inhibitors thereof for the diagnosis, prognosis and treatment of fibroproliferative disorders Cette invention concerne le domaine des pathologies fibroprolifératives, notamment la fibrose pulmonaire idiopathique (FPI) et à l implication des mirna dans le processus de fibrose tissulaire. Plus particulièrement, elle décrit l utilisation de mirna, en particulier du mir-199a-5p, de leurs cibles et/ou inhibiteurs pour le diagnostic, le pronostic et le traitement des pathologies fibroprolifératives, notamment la fibrose pulmonaire idiopathique (maladie pulmonaire chronique caractérisée par une cicatrisation excessive des tissus sains au niveau des poumons). L aspect thérapeutique de la FPI a pu être développé davantage par le lancement de travaux complémentaires portant en particulier sur la détermination d inhibiteurs potentiels du mir-199a-5p. Cela est rendu possible grâce notamment à un partenariat avec la une société de biotechnologies spécialisée en services et design des microrna et qui a apporté sa contribution dans le design et la chimie des molécules LNA (Locked Nucleic Acids) et de nucléotides spécifiques (Target side nucleotides) dotés d une meilleure vectorisation leur permettant d inhiber très spécifiquement la cible. Des résultats préliminaires très encourageants sont obtenus in vitro depuis octobre 2012 et les premiers résultats in vivo sont également obtenus récemment. Brevet prioritaire ref. FR est déposé le 06/02/2012 (pas encore publié). 2- Dr BLONDEL s invention, ref /VA: Compounds for the treatment of mitochondrial diseases L invention concerne des molécules (dont l une d entre elles a été reproduite ci-dessus) capables d améliorer la croissance respiratoire d un modèle levure pour la maladie mitochondriale humaine NARP (neuropathie, Ataxie, rétinite Pigmentaire). Il s agit de syndromes liés à des mutations bien caractérisées dans le gène mitochondrial ATP6 et conduisant à un déficit de production d ATP par l ATP synthase F1F0. O O N + O Cl O Molécule L134H07 O Brevet prioritaire ref. EP déposé le 17/04/2009; PCT: WO Extensions : EP, US, CA, JP 23/04/2014

16 UPCOMING OPPORTUNITIES (Confidential - Further information upon request) - Dr LEFEBVRE s invention, Ref /CL: «Peptide pour son utilisation dans le traitement des neuronopathies motrices» Patent: Priority patent n FR 2013/ filed on January 04, 2013 naming as inventor Suzie LEFEBVRE. 23/04/2014

17 FIST SA in figures FIST SA is the acronym of France Innovation Scientifique et Transfert (France Scientific Innovation and Transfer). It was created in Paris in 1992 as a private company in order to focus on the transfer of innovative patents from French government-funded research organization (CNRS) to industry. Today, it represents 4.2 millions of sales. Shareholders 30% 70% CNRS Oséo A professional and specialized team With the benefit of a large range of technical competences, our team comes along from the protection of the invention to its licensing contract. The team (Total 45) Licensing Managers Lawyers Administratives Partner Search Project Manager EU Project Assistant IP Marketing Managers Portfolio Managers Assistants Foreign Client Project Manager A range of services The different services proposed by FIST SA are also available for private and start-up companies: - Intellectual property and valorization strategies - Partners research and negotiations - Patent portfolio management - Patent mapping/ Intellectual property landscape

18 Technology Transfer Success: examples Taxotere : Sanofi Aventis Chemotherapy drug approved in treatment of breast cancer, non-small cell lung cancer, advanced stomach cancer, head and neck cancer and metastatic prostate cancer. Sales in 2008: EUR 2,033 million Lupuzor : ImmuPharma / Cephalon Inc Drug that specifically modulates the immune system of Lupus patients. Lupuzor has successfully completed phase I, Phase IIa and Phase IIb studies. Sublicense to Cephalon inc. by ImmuPharma in Selectiose : PFDC - AVENE Sélectiose, amphiphilic derivative of Rhamnose reduces skin hypersensitivity and irritation and controls skin inflammation response. Marketed in cosmetic product line (Trixera+) in 2008 by AVENE. A collaboration success story: CENTRON C1S Fifteen years ago, a collaboration between a laboratory affiliated to the CNRS, the «Groupe d'etudes des Semi-conducteurs», and RMS, a division of the Schlumberger Company now integrated to the Itron/Actaris group, developed semi conductive straight structure III-V showing a magnetic field high sensibility and a low thermal drift. The magnetic sensor then developed allowed the manufacture of a new generation of residential electricity meter, the CENTRON C1S. This technology was enlarged to all the meters product range by ITRON. At the moment, 30 millions of meters have been fixed up in the USA and other countries. 5 millions of meters are yearly produced. CNRS in figures Budget for 2012 Euros 3.3 billion of which Euros 677 million come from revenues generated by CNRS Personnel 34,530 permanent employees 11,450 researchers 14,180 engineers and technical staff Organisation 10 institutes (3 of which have the status of national institutes) 19 regional offices, ensuring decentralized direct management of laboratories 1,100 research units (95 % are joint research laboratories with universities and industry) 40 International Associated Laboratories (LEA+LIA)

19 FIST SA always seeks industrial partners to develop and commercialize technologies held by CNRS within the framework of licenses or research agreements. We look forward to discussing any opportunity with you. Initiate the future For further Information please contact: FIST SA 83, Bd Exelmans PARIS France Tel: +33 (0) Fax: +33 (0)

A Genetic Analysis of Rheumatoid Arthritis

A Genetic Analysis of Rheumatoid Arthritis A Genetic Analysis of Rheumatoid Arthritis Introduction to Rheumatoid Arthritis: Classification and Diagnosis Rheumatoid arthritis is a chronic inflammatory disorder that affects mainly synovial joints.

More information

Gene Therapy. The use of DNA as a drug. Edited by Gavin Brooks. BPharm, PhD, MRPharmS (PP) Pharmaceutical Press

Gene Therapy. The use of DNA as a drug. Edited by Gavin Brooks. BPharm, PhD, MRPharmS (PP) Pharmaceutical Press Gene Therapy The use of DNA as a drug Edited by Gavin Brooks BPharm, PhD, MRPharmS (PP) Pharmaceutical Press Contents Preface xiii Acknowledgements xv About the editor xvi Contributors xvii An introduction

More information

Gene mutation and molecular medicine Chapter 15

Gene mutation and molecular medicine Chapter 15 Gene mutation and molecular medicine Chapter 15 Lecture Objectives What Are Mutations? How Are DNA Molecules and Mutations Analyzed? How Do Defective Proteins Lead to Diseases? What DNA Changes Lead to

More information

ALLIANCE FOR LUPUS RESEARCH AND PFIZER S CENTERS FOR THERAPEUTIC INNOVATION CHALLENGE GRANT PROGRAM PROGRAM GUIDELINES

ALLIANCE FOR LUPUS RESEARCH AND PFIZER S CENTERS FOR THERAPEUTIC INNOVATION CHALLENGE GRANT PROGRAM PROGRAM GUIDELINES ALLIANCE FOR LUPUS RESEARCH AND PFIZER S CENTERS FOR THERAPEUTIC INNOVATION CHALLENGE GRANT PROGRAM PROGRAM GUIDELINES DESCRIPTION OF GRANT MECHANISM The Alliance for Lupus Research (ALR) is an independent,

More information

HUNTINGTON S DISEASE THERAPIES RESEARCH UPDATE

HUNTINGTON S DISEASE THERAPIES RESEARCH UPDATE HUNTINGTON S DISEASE MULTIDISCIPLINARY CLINIC HUNTINGTON S DISEASE THERAPIES RESEARCH UPDATE From gene to treatments The gene that causes Huntington s disease (HD) was discovered in 1993. Since then, enormous

More information

The Most Common Autoimmune Disease: Rheumatoid Arthritis. Bonita S. Libman, M.D.

The Most Common Autoimmune Disease: Rheumatoid Arthritis. Bonita S. Libman, M.D. The Most Common Autoimmune Disease: Rheumatoid Arthritis Bonita S. Libman, M.D. Disclosures Two googled comics The Normal Immune System Network of cells and proteins that work together Goal: protect against

More information

Gene Silencing Oligos (GSOs) Third Generation Antisense

Gene Silencing Oligos (GSOs) Third Generation Antisense Gene Silencing Oligos (GSOs) Third Generation Antisense Walter R. Strapps, Ph.D. Executive Director, RNA Therapeutics Idera Pharmaceuticals Cambridge, MA NASDAQ: IDRA www.iderapharma.com Idera is a leader

More information

Transgene Presents Additional Positive Clinical Data from Phase 2b Part of TIME Trial with TG4010 at ESMO

Transgene Presents Additional Positive Clinical Data from Phase 2b Part of TIME Trial with TG4010 at ESMO Transgene Presents Additional Positive Clinical Data from Phase 2b Part of TIME Trial with TG4010 at ESMO Statistically significant difference in progression-free survival continues to be seen in non-squamous

More information

Summary of the risk management plan (RMP) for Orkambi (lumacaftor and ivacaftor)

Summary of the risk management plan (RMP) for Orkambi (lumacaftor and ivacaftor) EMA/662624/2015 Summary of the risk management plan (RMP) for Orkambi (lumacaftor and ivacaftor) This is a summary of the risk management plan (RMP) for Orkambi, which details the measures to be taken

More information

NORD Guides for Physicians #1. Physician s Guide to. Tyrosinemia. Type 1

NORD Guides for Physicians #1. Physician s Guide to. Tyrosinemia. Type 1 NORD Guides for Physicians #1 The National Organization for Rare Disorders Physician s Guide to Tyrosinemia Type 1 The original version of this booklet was made possible by donations in honor of Danielle

More information

Prospects for improving cognition in people with Down syndrome. Omar Khwaja MD PhD Translational Medicine Leader F.Hoffman-La Roche AG

Prospects for improving cognition in people with Down syndrome. Omar Khwaja MD PhD Translational Medicine Leader F.Hoffman-La Roche AG Prospects for improving cognition in people with Down syndrome Omar Khwaja MD PhD Translational Medicine Leader F.Hoffman-La Roche AG Basic facts at a glance Founded 1896 in Basel, Switzerland Founding

More information

Cholinesterase inhibitors and memantine use for Alzheimer s disease TOPIC REVIEW

Cholinesterase inhibitors and memantine use for Alzheimer s disease TOPIC REVIEW Cholinesterase inhibitors and memantine use for Alzheimer s disease TOPIC REVIEW Diagnosis of Dementia : DSM-IV criteria Loss of memory and one or more other cognitive abilities Aphasia Apraxia Agnosia

More information

Lecture 3: Mutations

Lecture 3: Mutations Lecture 3: Mutations Recall that the flow of information within a cell involves the transcription of DNA to mrna and the translation of mrna to protein. Recall also, that the flow of information between

More information

Summary of Discussion on Non-clinical Pharmacology Studies on Anticancer Drugs

Summary of Discussion on Non-clinical Pharmacology Studies on Anticancer Drugs Provisional Translation (as of January 27, 2014)* November 15, 2013 Pharmaceuticals and Bio-products Subcommittees, Science Board Summary of Discussion on Non-clinical Pharmacology Studies on Anticancer

More information

Exelixis Showcases R&D Pipeline at JPMorgan Healthcare Conference

Exelixis Showcases R&D Pipeline at JPMorgan Healthcare Conference Exelixis Showcases R&D Pipeline at JPMorgan Healthcare Conference Two New Clinical Programs and Significant Expansion of Cancer Pipeline Planned for 2004 SOUTH SAN FRANCISCO, Calif., Jan. 13 /PRNewswire-FirstCall/

More information

Medical Therapies Limited EGM Presentation

Medical Therapies Limited EGM Presentation Medical Therapies Limited EGM Presentation Maria Halasz Chief Executive Officer 5 May 2009 1 Agenda 1. Company information 2. Recent developments 3. Business strategy 4. Key value inflection points for

More information

Management in the pre-hospital setting

Management in the pre-hospital setting Management in the pre-hospital setting Inflammation of the joints Two main types: Osteoarthritis - cartilage loss from wear and tear Rheumatoid arthritis - autoimmune disorder Affects all age groups,

More information

Genetic Testing in Research & Healthcare

Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research and Healthcare Human genetic testing is a growing science. It is used to study genes

More information

Cystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program

Cystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program Cystic Fibrosis Webquest Sarah Follenweider, The English High School 2009 Summer Research Internship Program Introduction: Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and

More information

The NeurOmics team at a recent project meeting

The NeurOmics team at a recent project meeting Introduction Welcome to the NeurOmics project newsletter. This is the second edition and comes after the project has been underway for just over a year. This means that whilst we still have lots of work

More information

Umm AL Qura University MUTATIONS. Dr Neda M Bogari

Umm AL Qura University MUTATIONS. Dr Neda M Bogari Umm AL Qura University MUTATIONS Dr Neda M Bogari CONTACTS www.bogari.net http://web.me.com/bogari/bogari.net/ From DNA to Mutations MUTATION Definition: Permanent change in nucleotide sequence. It can

More information

1 Mutation and Genetic Change

1 Mutation and Genetic Change CHAPTER 14 1 Mutation and Genetic Change SECTION Genes in Action KEY IDEAS As you read this section, keep these questions in mind: What is the origin of genetic differences among organisms? What kinds

More information

Genetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes.

Genetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Genetic Mutations Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Agenda Warm UP: What is a mutation? Body cell? Gamete? Notes on Mutations Karyotype Web Activity

More information

Nursing 113. Pharmacology Principles

Nursing 113. Pharmacology Principles Nursing 113 Pharmacology Principles 1. The study of how drugs enter the body, reach the site of action, and are removed from the body is called a. pharmacotherapeutics b. pharmacology c. pharmacodynamics

More information

Evaluation of the role of gene polymorphisms in anticancer drug efficacy using in vitro models

Evaluation of the role of gene polymorphisms in anticancer drug efficacy using in vitro models Group members and Contact details Jacques Robert graduated in medicine from the University of Strasbourg in 1974 and received hi Research projects: The objectives of our group are: (1) to identify preclinical

More information

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives

What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What does the career involve? Explore family histories to identify risks Reducing risks

More information

RNAi Shooting the Messenger!

RNAi Shooting the Messenger! RNAi Shooting the Messenger! Bronya Keats, Ph.D. Department of Genetics Louisiana State University Health Sciences Center New Orleans Email: bkeats@lsuhsc.edu RNA interference (RNAi) A mechanism by which

More information

Version 1 2015. Module guide. Preliminary document. International Master Program Cardiovascular Science University of Göttingen

Version 1 2015. Module guide. Preliminary document. International Master Program Cardiovascular Science University of Göttingen Version 1 2015 Module guide International Master Program Cardiovascular Science University of Göttingen Part 1 Theoretical modules Synopsis The Master program Cardiovascular Science contains four theoretical

More information

Pharmacology skills for drug discovery. Why is pharmacology important?

Pharmacology skills for drug discovery. Why is pharmacology important? skills for drug discovery Why is pharmacology important?, the science underlying the interaction between chemicals and living systems, emerged as a distinct discipline allied to medicine in the mid-19th

More information

Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs)

Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Single nucleotide polymorphisms or SNPs (pronounced "snips") are DNA sequence variations that occur

More information

Name Class Date. Figure 13 1. 2. Which nucleotide in Figure 13 1 indicates the nucleic acid above is RNA? a. uracil c. cytosine b. guanine d.

Name Class Date. Figure 13 1. 2. Which nucleotide in Figure 13 1 indicates the nucleic acid above is RNA? a. uracil c. cytosine b. guanine d. 13 Multiple Choice RNA and Protein Synthesis Chapter Test A Write the letter that best answers the question or completes the statement on the line provided. 1. Which of the following are found in both

More information

FGF-1 as Cosmetic Supplement

FGF-1 as Cosmetic Supplement FGF-1 as Cosmetic Supplement Ing-Ming Chiu, Ph.D. Professor, Internal Medicine and Molecular and Cellular Biochemistry The Ohio State University Columbus, Ohio, U.S.A. GENTEON USA Fibroblast Growth Factor

More information

INSERM/ A. Bernheim. Overcoming clinical relapse in multiple myeloma by understanding and targeting the molecular causes of drug resistance

INSERM/ A. Bernheim. Overcoming clinical relapse in multiple myeloma by understanding and targeting the molecular causes of drug resistance A. Bernheim Overcoming clinical relapse in multiple myeloma by understanding and targeting the molecular causes of drug resistance OVER-MyR is funded by the European Commission within its FP7 specific

More information

GENOMICS: REINVIGORATING THE FIELD OF PSYCHIATRIC RESEARCH

GENOMICS: REINVIGORATING THE FIELD OF PSYCHIATRIC RESEARCH Office of Communications www.broadinstitute.org T 617-714-7151 communications@broadinstitute.org 7 Cambridge Center, Cambridge, MA 02142 GENOMICS: REINVIGORATING THE FIELD OF PSYCHIATRIC RESEARCH For decades,

More information

BSc in Medical Sciences with PHARMACOLOGY

BSc in Medical Sciences with PHARMACOLOGY BSc in Medical Sciences with PHARMACOLOGY Course Director Dr Christopher John Module Leaders Dr Robert Dickinson (Module 1) Dr Anabel Varela Carver (Module 2) Dr Sohag Saleh (Module 3) Course Administrator

More information

If you were diagnosed with cancer today, what would your chances of survival be?

If you were diagnosed with cancer today, what would your chances of survival be? Q.1 If you were diagnosed with cancer today, what would your chances of survival be? Ongoing medical research from the last two decades has seen the cancer survival rate increase by more than 40%. However

More information

Chapter 28. Drug Treatment of Parkinson s Disease

Chapter 28. Drug Treatment of Parkinson s Disease Chapter 28 Drug Treatment of Parkinson s Disease 1. Introduction Parkinsonism Tremors hands and head develop involuntary movements when at rest; pin rolling sign (finger and thumb) Muscle rigidity arthritis

More information

INTERNATIONAL CONFERENCE ON HARMONISATION OF TECHNICAL REQUIREMENTS FOR REGISTRATION OF PHARMACEUTICALS FOR HUMAN USE S1A. Current Step 4 version

INTERNATIONAL CONFERENCE ON HARMONISATION OF TECHNICAL REQUIREMENTS FOR REGISTRATION OF PHARMACEUTICALS FOR HUMAN USE S1A. Current Step 4 version INTERNATIONAL CONFERENCE ON HARMONISATION OF TECHNICAL REQUIREMENTS FOR REGISTRATION OF PHARMACEUTICALS FOR HUMAN USE ICH HARMONISED TRIPARTITE GUIDELINE GUIDELINE ON THE NEED FOR CARCINOGENICITY STUDIES

More information

Drugs, The Brain, and Behavior

Drugs, The Brain, and Behavior Drugs, The Brain, and Behavior John Nyby Department of Biological Sciences Lehigh University What is a drug? Difficult to define Know it when you see it Neuroactive vs Non-Neuroactive drugs Two major categories

More information

Translational research infrastructure in Neurosciences 15.06.2011/Bruxelles

Translational research infrastructure in Neurosciences 15.06.2011/Bruxelles ITMO Neurosciences, sciences cognitives, neurologie, psychiatrie Translational research infrastructure in Neurosciences 15.06.2011/Bruxelles ITMO Technologie pour la santé 1 NEUROSCIENCE MEDICAL CHALLENGES

More information

CHAPTER- 6. Okadaic acid induced neurotoxicity leads to central cholinergic dysfunction in rats. 1. Introduction. 2. Methods

CHAPTER- 6. Okadaic acid induced neurotoxicity leads to central cholinergic dysfunction in rats. 1. Introduction. 2. Methods CHAPTER- 6 Okadaic acid induced neurotoxicity leads to central cholinergic dysfunction in rats 1. Introduction Neurodegenerative disorders, such as AD are often characterized by the degeneration of the

More information

Basic Overview of Preclinical Toxicology Animal Models

Basic Overview of Preclinical Toxicology Animal Models Basic Overview of Preclinical Toxicology Animal Models Charles D. Hebert, Ph.D., D.A.B.T. December 5, 2013 Outline Background In Vitro Toxicology In Vivo Toxicology Animal Models What is Toxicology? Background

More information

INTRODUCTION Thrombophilia deep vein thrombosis DVT pulmonary embolism PE inherited thrombophilia

INTRODUCTION Thrombophilia deep vein thrombosis DVT pulmonary embolism PE inherited thrombophilia INTRODUCTION Thrombophilia (Hypercoagulability) is a condition in which a person forms blood clots more than normal. Blood clots may occur in the arms or legs (e.g., deep vein thrombosis DVT), the lungs

More information

Structure and Function of DNA

Structure and Function of DNA Structure and Function of DNA DNA and RNA Structure DNA and RNA are nucleic acids. They consist of chemical units called nucleotides. The nucleotides are joined by a sugar-phosphate backbone. The four

More information

Diabetes and Drug Development

Diabetes and Drug Development Diabetes and Drug Development Metabolic Disfunction Leads to Multiple Diseases Hypertension ( blood pressure) Metabolic Syndrome (Syndrome X) LDL HDL Lipoproteins Triglycerides FFA Hyperinsulinemia Insulin

More information

www.iproteos.com Corporate Presentation November, 2013

www.iproteos.com Corporate Presentation November, 2013 www.iproteos.com Corporate Presentation November, 2013 The company Iproteos is an early-stage drug development company founded in 2011: Spin-Out from Institute for Research in Biomedicine (IRB Barcelona)

More information

MCDB 4777/5777 Molecular Neurobiology Lecture 38 Alzheimer s Disease

MCDB 4777/5777 Molecular Neurobiology Lecture 38 Alzheimer s Disease MCDB 4777/5777 Molecular Neurobiology Lecture 38 Alzheimer s Disease Outline of Today s Lecture Why is Alzheimer s disease a problem? What is Alzheimer s Disease? What causes Alzheimer s disease? How can

More information

ICH Topic S 1 A The Need for Carcinogenicity Studies of Pharmaceuticals. Step 5

ICH Topic S 1 A The Need for Carcinogenicity Studies of Pharmaceuticals. Step 5 European Medicines Agency July 1996 CPMP/ICH/140/95 ICH Topic S 1 A The Need for Carcinogenicity Studies of Pharmaceuticals Step 5 NOTE FOR GUIDANCE ON THE NEED FOR CARCINOGENICITY STUDIES OF PHARMACEUTICALS

More information

Understanding the immune response to bacterial infections

Understanding the immune response to bacterial infections Understanding the immune response to bacterial infections A Ph.D. (SCIENCE) DISSERTATION SUBMITTED TO JADAVPUR UNIVERSITY SUSHIL KUMAR PATHAK DEPARTMENT OF CHEMISTRY BOSE INSTITUTE 2008 CONTENTS Page SUMMARY

More information

RICERCA FINALIZZATA+GIOVANI RICERCATORI MALATTIE RARE. Graduatoria e Finanziamento

RICERCA FINALIZZATA+GIOVANI RICERCATORI MALATTIE RARE. Graduatoria e Finanziamento Direzione Generale Ricerca Scientifica e Tecnologica RICERCA FINALIZZATA+GIOVANI RICERCATORI MALATTIE RARE Graduatoria e Finanziamento Ministero della Salute Direzione Generale Ricerca Scientifica e Tecnologica

More information

Company Presentation June 2011 Biotest AG 0

Company Presentation June 2011 Biotest AG 0 Company Presentation June 2011 0 Disclaimer This document contains forward-looking statements on overall economic development as well as on the business, earnings, financial and asset situation of and

More information

Hormones & Chemical Signaling

Hormones & Chemical Signaling Hormones & Chemical Signaling Part 2 modulation of signal pathways and hormone classification & function How are these pathways controlled? Receptors are proteins! Subject to Specificity of binding Competition

More information

Mendelian inheritance and the

Mendelian inheritance and the Mendelian inheritance and the most common genetic diseases Cornelia Schubert, MD, University of Goettingen, Dept. Human Genetics EUPRIM-Net course Genetics, Immunology and Breeding Mangement German Primate

More information

Chapter 8. Summary and Perspectives

Chapter 8. Summary and Perspectives Chapter 8 Summary and Perspectives 131 Chapter 8 Summary Overexpression of the multidrug resistance protein MRP1 confer multidrug resistance (MDR) to cancer cells. The contents of this thesis describe

More information

Multifocal Motor Neuropathy. Jonathan Katz, MD Richard Lewis, MD

Multifocal Motor Neuropathy. Jonathan Katz, MD Richard Lewis, MD Multifocal Motor Neuropathy Jonathan Katz, MD Richard Lewis, MD What is Multifocal Motor Neuropathy? Multifocal Motor Neuropathy (MMN) is a rare condition in which multiple motor nerves are attacked by

More information

Becker Muscular Dystrophy

Becker Muscular Dystrophy Muscular Dystrophy A Case Study of Positional Cloning Described by Benjamin Duchenne (1868) X-linked recessive disease causing severe muscular degeneration. 100 % penetrance X d Y affected male Frequency

More information

FACT SHEET TESTETROL, A NOVEL ORALLY BIOACTIVE ANDROGEN

FACT SHEET TESTETROL, A NOVEL ORALLY BIOACTIVE ANDROGEN FACT SHEET TESTETROL, A NOVEL ORALLY BIOACTIVE ANDROGEN General Pantarhei Bioscience B.V. is an emerging specialty pharmaceutical company with a creative approach towards drug development. The Company

More information

The Types of stem cells: Totipotent Pluripotent Multipotent

The Types of stem cells: Totipotent Pluripotent Multipotent Stem Cells is the main material for building and regeneration of the body Stem cells are not differentiated and can transform to any cell of organism Stem cells are capable of indefinite renewal through

More information

The Need for a PARP in vivo Pharmacodynamic Assay

The Need for a PARP in vivo Pharmacodynamic Assay The Need for a PARP in vivo Pharmacodynamic Assay Jay George, Ph.D., Chief Scientific Officer, Trevigen, Inc., Gaithersburg, MD For further infomation, please contact: William Booth, Ph.D. Tel: +44 (0)1235

More information

Alcohol and Brain Damage

Alcohol and Brain Damage Alcohol and Brain Damage By: James L. Holly, MD O God, that men should put an enemy in their mouths to steal away their brains! That we should, with joy, pleasance, revel, and applause, transform ourselves

More information

Roche Position on Human Stem Cells

Roche Position on Human Stem Cells Roche Position on Human Stem Cells Background Stem cells and treating diseases. Stem cells and their applications offer an enormous potential for the treatment and even the cure of diseases, along with

More information

Sickle cell anemia: Altered beta chain Single AA change (#6 Glu to Val) Consequence: Protein polymerizes Change in RBC shape ---> phenotypes

Sickle cell anemia: Altered beta chain Single AA change (#6 Glu to Val) Consequence: Protein polymerizes Change in RBC shape ---> phenotypes Protein Structure Polypeptide: Protein: Therefore: Example: Single chain of amino acids 1 or more polypeptide chains All polypeptides are proteins Some proteins contain >1 polypeptide Hemoglobin (O 2 binding

More information

PX Therapeutics : the partner for early stage biotherapeutics development Biotuesday, May 5 2009

PX Therapeutics : the partner for early stage biotherapeutics development Biotuesday, May 5 2009 PX Therapeutics : the partner for early stage biotherapeutics development Biotuesday, May 5 2009 Christelle Dagoneau, PhD Business Development Director Company Profile Protein expert incorporated in 2000

More information

Autoimmunity and immunemediated. FOCiS. Lecture outline

Autoimmunity and immunemediated. FOCiS. Lecture outline 1 Autoimmunity and immunemediated inflammatory diseases Abul K. Abbas, MD UCSF FOCiS 2 Lecture outline Pathogenesis of autoimmunity: why selftolerance fails Genetics of autoimmune diseases Therapeutic

More information

Chapter 10. Summary & Future perspectives

Chapter 10. Summary & Future perspectives Summary & Future perspectives 123 Multiple sclerosis is a chronic disorder of the central nervous system, characterized by inflammation and axonal degeneration. All current therapies modulate the peripheral

More information

Luca Romagnoli, Ph.D. Business Development Manager

Luca Romagnoli, Ph.D. Business Development Manager Modelli innovativi di produzione per lo sviluppo di un processo altamente qualitativo di farmaci biologici Luca Romagnoli, Ph.D. Business Development Manager BIOLOGICAL DRUGS - SOURCES Monoclonal antibodies

More information

MAB Solut. MABSolys Génopole Campus 1 5 rue Henri Desbruères 91030 Evry Cedex. www.mabsolut.com. is involved at each stage of your project

MAB Solut. MABSolys Génopole Campus 1 5 rue Henri Desbruères 91030 Evry Cedex. www.mabsolut.com. is involved at each stage of your project Mabsolus-2015-UK:Mise en page 1 03/07/15 14:13 Page1 Services provider Department of MABSolys from conception to validation MAB Solut is involved at each stage of your project Creation of antibodies Production

More information

The Brain and Spine CenTer

The Brain and Spine CenTer The Br ain and Spine Center Choosing the right treatment partner is important for patients facing tumors involving the brain, spine or skull base. The Brain and Spine Center at The University of Texas

More information

Clinical trials preclinical requirements. Clinical trials - legislation

Clinical trials preclinical requirements. Clinical trials - legislation Clinical trials preclinical requirements Mikael Andersson, PhD Senior Expert Medical Products Agency, Sweden Tallinn 9/10 2009 Clinical trials - legislation Directive 2001/20/EC Clinical trial directive

More information

Cystic Fibrosis. Cystic fibrosis affects various systems in children and young adults, including the following:

Cystic Fibrosis. Cystic fibrosis affects various systems in children and young adults, including the following: Cystic Fibrosis What is cystic fibrosis? Cystic fibrosis (CF) is an inherited disease characterized by an abnormality in the glands that produce sweat and mucus. It is chronic, progressive, and is usually

More information

CAMBRIDGE UNIVERSITY CENTRE FOR BRAIN REPAIR A layman's account of our scientific objectives What is Brain Damage? Many forms of trauma and disease affect the nervous system to produce permanent neurological

More information

2006 7.012 Problem Set 6 KEY

2006 7.012 Problem Set 6 KEY 2006 7.012 Problem Set 6 KEY ** Due before 5 PM on WEDNESDAY, November 22, 2006. ** Turn answers in to the box outside of 68-120. PLEASE WRITE YOUR ANSWERS ON THIS PRINTOUT. 1. You create an artificial

More information

Dissecting the Role of MeCP2 in Brain & Implications for Autism Spectrum Disorders

Dissecting the Role of MeCP2 in Brain & Implications for Autism Spectrum Disorders Dissecting the Role of MeCP2 in Brain & Implications for Autism Spectrum Disorders Lisa M. Monteggia, Ph.D. Department of Psychiatry UT Southwestern Medical Center, Dallas, TX Autism Twin studies examining

More information

B Cells and Antibodies

B Cells and Antibodies B Cells and Antibodies Andrew Lichtman, MD PhD Brigham and Women's Hospital Harvard Medical School Lecture outline Functions of antibodies B cell activation; the role of helper T cells in antibody production

More information

Hydroxycarbamide: Mode of action. Jacques Elion, MD, PhD

Hydroxycarbamide: Mode of action. Jacques Elion, MD, PhD Hydroxycarbamide: Mode of action Jacques Elion, MD, PhD jacques.elion@inserm.fr National Reference Centers for Sickle Cell Disease Department of Medical Genetics and UMR 665 Robert Debré University Hospital,

More information

TERM SHEET EXAMPLE. 1 P age

TERM SHEET EXAMPLE. 1 P age 1 P age TERM SHEET EXAMPLE BIOTECHCO Overview & Business Strategy BIOTECHCO (the licensor), located in North Dakota, has a proprietary technology called ZIP that can generate fully human antibodies with

More information

Newsletter. WntResearch AB, Medeon Science Park, Per Albin Hanssons väg 41, 205 12 Malmö, Sweden. Primary Objective:

Newsletter. WntResearch AB, Medeon Science Park, Per Albin Hanssons väg 41, 205 12 Malmö, Sweden. Primary Objective: Newsletter This resume of the results from the phase 1 study with Foxy-5 is based on clinical and laboratory data from the study, and these data have now been locked into the database. The full report

More information

Not All Clinical Trials Are Created Equal Understanding the Different Phases

Not All Clinical Trials Are Created Equal Understanding the Different Phases Not All Clinical Trials Are Created Equal Understanding the Different Phases This chapter will help you understand the differences between the various clinical trial phases and how these differences impact

More information

Introduction to Psychology, 7th Edition, Rod Plotnik Module 3: Brain s Building Blocks. Module 3. Brain s Building Blocks

Introduction to Psychology, 7th Edition, Rod Plotnik Module 3: Brain s Building Blocks. Module 3. Brain s Building Blocks Module 3 Brain s Building Blocks Structure of the Brain Genes chains of chemicals that are arranged like rungs on a twisting ladder there are about 100,000 genes that contain chemical instructions that

More information

Clinical and Therapeutic Cannabis Information. Written by Cannabis Training University (CTU) All rights reserved

Clinical and Therapeutic Cannabis Information. Written by Cannabis Training University (CTU) All rights reserved Clinical and Therapeutic Cannabis Information Written by Cannabis Training University (CTU) All rights reserved Contents Introduction... 3 Chronic Pain... 6 Neuropathic Pain... 8 Movement Disorders...

More information

The RNA strategy. RNA as a tool and target in human disease diagnosis and therapy.

The RNA strategy. RNA as a tool and target in human disease diagnosis and therapy. The RNA strategy RNA as a tool and target in human disease diagnosis and therapy. The Laboratory of RNA Biology and Biotechnology at the Centre for Integrative Biology (CIBIO) of the University of Trento,

More information

Cystic Fibrosis. - incidence: 1 in 2000-3000; predominantly Caucausian populations (carrier frequency 1 in 22-28)

Cystic Fibrosis. - incidence: 1 in 2000-3000; predominantly Caucausian populations (carrier frequency 1 in 22-28) Cystic Fibrosis - lethal autosomal recessive disease - incidence: 1 in 2000-3000; predominantly Caucausian populations (carrier frequency 1 in 22-28) - disease gene CFTR (cystic fibrosis transmembrane

More information

A Case for Cure: Drug Portfolio Analysis. Team: PharmaKings Anirvan Chaudhuri Neha Madan Xiao Huang Jason Park Anjai Lal

A Case for Cure: Drug Portfolio Analysis. Team: PharmaKings Anirvan Chaudhuri Neha Madan Xiao Huang Jason Park Anjai Lal A Case for Cure: Drug Portfolio Analysis Team: PharmaKings Anirvan Chaudhuri Neha Madan Xiao Huang Jason Park Anjai Lal Executive Summary Our team recommends. A Recombinant Protein for treatment of Multiple

More information

Stem cells and motor neurone disease

Stem cells and motor neurone disease Stem cells and motor neurone disease F Stem cell research has fuelled hope of a treatment for a variety of conditions. This information sheet explains what these cells are and includes details of the current

More information

CLINICAL POLICY Department: Medical Management Document Name: Opdivo Reference Number: CP.PHAR.121 Effective Date: 07/15

CLINICAL POLICY Department: Medical Management Document Name: Opdivo Reference Number: CP.PHAR.121 Effective Date: 07/15 Page: 1 of 6 IMPORTANT REMINDER This Clinical Policy has been developed by appropriately experienced and licensed health care professionals based on a thorough review and consideration of generally accepted

More information

Spinal Muscular Atrophy

Spinal Muscular Atrophy Maryam Oskoui, MD, MSc, FRCPC Pediatric Neurologist Spinal Muscular Atrophy Elise Historical Timeline In vitro and animal studies Werdnig and Hoffmann describe SMA 1 (Arch Psych Nervenkrankheiten) Disease

More information

Graduate and Postdoctoral Affairs School of Biomedical Sciences College of Medicine. Graduate Certificate. Metabolic & Nutritional Medicine

Graduate and Postdoctoral Affairs School of Biomedical Sciences College of Medicine. Graduate Certificate. Metabolic & Nutritional Medicine Graduate and Postdoctoral Affairs School of Biomedical Sciences College of Medicine Graduate Certificate in Metabolic & Nutritional Medicine Graduate Certificate Metabolic & Nutritional Medicine Purpose

More information

2) Macrophages function to engulf and present antigen to other immune cells.

2) Macrophages function to engulf and present antigen to other immune cells. Immunology The immune system has specificity and memory. It specifically recognizes different antigens and has memory for these same antigens the next time they are encountered. The Cellular Components

More information

Programa Cooperación Farma-Biotech Neurociencias NT-KO-003

Programa Cooperación Farma-Biotech Neurociencias NT-KO-003 Programa Cooperación Farma-Biotech Neurociencias NT-KO-003 A new oral treatment for Multiple Sclerosis based on a novel mechanism of action Barcelona, 15 de febrero 2011 Programa Cooperación Farma-Biotech

More information

Chapter 4 Pedigree Analysis in Human Genetics. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning

Chapter 4 Pedigree Analysis in Human Genetics. Chapter 4 Human Heredity by Michael Cummings 2006 Brooks/Cole-Thomson Learning Chapter 4 Pedigree Analysis in Human Genetics Mendelian Inheritance in Humans Pigmentation Gene and Albinism Fig. 3.14 Two Genes Fig. 3.15 The Inheritance of Human Traits Difficulties Long generation time

More information

19. Drug Treatment Trials

19. Drug Treatment Trials 1 9. D R U G T R E A T M E N T T R I A L S 19. Drug Treatment Trials The science behind the Progeria clinical drug trials Trial medications at a glance Progeria clinical drug trials The science behind

More information

Technological platforms

Technological platforms Advitech Advitech is a life sciences & technology company Its mission is to discover and commercialize proprietary and evidence-based natural health products Focus on milk, whey and bovine colostrum R&D,

More information

PART I: Neurons and the Nerve Impulse

PART I: Neurons and the Nerve Impulse PART I: Neurons and the Nerve Impulse Identify each of the labeled structures of the neuron below. A. B. C. D. E. F. G. Identify each of the labeled structures of the neuron below. A. dendrites B. nucleus

More information

THE SIDNEY KIMMEL COMPREHENSIVE CANCER CENTER AT JOHNS HOPKINS

THE SIDNEY KIMMEL COMPREHENSIVE CANCER CENTER AT JOHNS HOPKINS Ushering in a new era of cancer medicine Center is ushering in a new era of cancer medicine. Progress that could not even be imagined a decade ago is now being realized in our laboratories and our clinics.

More information

Human Mendelian Disorders. Genetic Technology. What is Genetics? Genes are DNA 9/3/2008. Multifactorial Disorders

Human Mendelian Disorders. Genetic Technology. What is Genetics? Genes are DNA 9/3/2008. Multifactorial Disorders Human genetics: Why? Human Genetics Introduction Determine genotypic basis of variant phenotypes to facilitate: Understanding biological basis of human genetic diversity Prenatal diagnosis Predictive testing

More information

Cytotoxic and Biotherapies Credentialing Programme Module 2

Cytotoxic and Biotherapies Credentialing Programme Module 2 Cytotoxic and Biotherapies Credentialing Programme Module 2 1. The Cell Cycle 2. Cancer Therapies 3. Adjunctive Therapies On completion of this module the RN will State the difference between a normal

More information

Summary of the risk management plan (RMP) for Ofev (nintedanib)

Summary of the risk management plan (RMP) for Ofev (nintedanib) EMA/738120/2014 Summary of the risk management plan (RMP) for Ofev (nintedanib) This is a summary of the risk management plan (RMP) for Ofev, which details the measures to be taken in order to ensure that

More information

BNC105 CANCER CLINICAL TRIALS REACH KEY MILESTONES CLINICAL PROGRAM TO BE EXPANDED

BNC105 CANCER CLINICAL TRIALS REACH KEY MILESTONES CLINICAL PROGRAM TO BE EXPANDED ASX ANNOUNCEMENT 3 August 2011 ABN 53 075 582 740 BNC105 CANCER CLINICAL TRIALS REACH KEY MILESTONES CLINICAL PROGRAM TO BE EXPANDED Data from renal cancer trial supports progression of the trial: o Combination

More information

Types of Hypersensitivity. Type I: Allergic Reactions. more on Allergic Reactions

Types of Hypersensitivity. Type I: Allergic Reactions. more on Allergic Reactions Chapter 19: Disorders of the Immune System 1. Hypersensitivity 2. Autoimmunity 3. Transplant Rejection 1. Hypersensitivity What is Hypersensitivity? Hypersensitivity is an immunological state in which

More information