My Sister s s Keeper. Science Background Talk

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1 My Sister s s Keeper Science Background Talk

2 Outline Acute promyelocytic leukemia (APL) APL Treatment Savior Siblings In vitro fertilization (IVF) Pre-implantation Genetic Diagnosis (PGD) Risks of donating a kidney

3 Acute promyelocytic leukemia (APL) APL is a rare type of acute myeloid leukemia (AML) APL is caused by translocation between chromosomes 15 and 17 This leads to a deficiency of mature myelocytes and excess of immature promyelocytes a.jpg

4 APL Symptoms Fatigue, weakness, shortness of breath From anemia (low red blood cells) Easy bruising and bleeding From thrombocytopenia (low platelets) Fever and infection From the lack of normal white blood cells Abdominal discomfort Due to the enlargement of spleen

5 APL Treatment Initial treatment includes: Chemotherapy + ATRA (all-trans retionic acid) This induces remission in 80-90% of patients After there are signs of remission, need to undergo consolidation therapy to consolidate the remission This often includes two more courses of ATRA and chemotherapy After consolidation therapy, undergo maintenance therapy for at least one year

6 APL Treatment Bone marrow, peripheral blood, and umbilical cord transplants These transplants restore lost blood cells thereby allowing doctors to use higher doses of chemo and radiation to fight the cancer

7 Savior Siblings The creation of a genetically matched human being in order to be the savior of a sick child in need of a donor Since savior siblings are genetically designed, they are sometimes called designer babies

8 Role of Savior Siblings (SS) SS can donate umbilical cord blood stem cells at birth Later in life, SS can donate bone marrow Donor receives Growth Hormone injections for 3 days prior to bone marrow donation After donation, donors may feel stiff, sore, tired for days and may not fully recover strength for weeks SS can also be a potential organ donor

9 Real Savior Siblings Nash Family (USA) 6 year old daughter had Fanconi s s anemia A savior son was born as a donor for sister British Hashmi Family (U.K.) Son had hereditary Beta Thalassanemia After the family appealed, the UK s s HFEA (Human Fertilisation and Embryology Authority) allowed use of PGD/IVF to create a Savior Sibling Whitaker Family (U.K.) 3 year old son had Diamond-Blackfan anemia from nonhereditary genetic mutation The UK s s HFEA denied the use PGD so the family went to Chicago to create a Savior Sibling

10 Designing a Savior Sibling Kate needs a perfect HLA embryo match in order to receive cord blood HLA: Human Leukocyte Antigen Design a Savior Sibling using: In vitro fertilization (IVF) Pre-Implantation Genetic Diagnosis (PGD)

11 IVF is a method of assisted reproduction In IVF, sperm and egg are combined and fertilized in vitro ( in glass ) Then of the resulting embryos are transferred to women s s uterus for implantation IVF

12 PGD PGD involves the screening of early embryos for selection of healthy embryo To screen embryos, a single cell is removed from 8-cell embryos for genetic testing The selected embryo is then implanted into mother s s uterus with IVF and the remaining embryos are rejected

13 Embryo Biopsy

14 Embryo Biopsy

15 Risks of Donating a Kidney 3-55 day hospitalization 2-33 months recovery time No pregnancy complications Long term side effects include: Slight chance of high blood pressure, and excess protein in urine Remaining kidney will grow to compensate Up to a 1% chance that remaining kidney will fail Must avoid certain pain medications (ex. Ibuprofen)

16 Works Referenced "Acute Promyelocytic Leukemia." MedicineNet. Web. 5 Mar <http://www.medterms.com/script/main/art.asp?articlekey=19758>. "The Age of "Savior Siblings"" Westchester Institute for Ethics and the Human Person.. 9 Oct Web. 4 Feb <http://www.westchesterinstitute.net/e t/e-column/2007- archive/248>. "Frequently Asked Questions about Living Donor Kidney Transplant." Kidney Transplant. Mayo Clinic. Web. 18 Feb <http://www.mayoclinic.org/kidney- transplant/livingdonorfaq.html>. "In Vitro Fertilization." EMedicine Health. Web. 12 Feb <http://www.emedicinehealth.com/in_vitro_fertilization/article_em.htm>. m.htm>. "Kidney Donation: Are There Long-term Risks?" Medical Information and Tools for Healthy Living.. Mayo Clinic. Web. 16 Feb <http://www.mayoclinic.com/health/kidney lth/kidney- donation/an01988>. "Living Kidney Donation." Living Donors Online! Web. 16 Feb <http://www.livingdonorsonline.org/kidney/kidney6.htm>. "'Saviour Sibling' Babies Get Green Light." New Scientist, 22 July Web. 8 Feb <http://www.newscientist.com/article/dn6195-saviour saviour-sibling-babies-get-green green-light.html>. "Saviour Sibling." World Wide Words, 11 Aug Web. 16 Feb <http://www.worldwidewords.org/turnsofphrase/tp-sav1.htm>. sav1.htm>. Sibler, M.D., Sherman J. "Pre-Implantation Genetic Diagnosis (PGD)." Infertility Clinic of Saint Louis, Web. 16 Feb <http://www.infertile.com/infertility infertility- treatments/pgd.htm>. "Treatment of Acute Promyelocytic (M3) Leukemia." Information and Resources for Cancer.. American Cancer Society. Web. 5 Mar <http://www.cancer.org/docroot/cri/content/cri_2_4_4x_treatment_of_acute_promyeloc of_acute_promyeloc ytic_m3_leukemia_aml.asp>.

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