The Human Genome Project Lab #5: Genetic Databases Diseases, & Patents

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1 The Human Genome Project Lab #5: Genetic Databases Diseases, & Patents Spring 2013

2 DNA is a huge molecule made up of building blocks called bases A, T, G, C - can be arranged in any sequence To a cell, the sequential order of the bases contains messages Each GENE is a sequence of bases that contains information to make a specific PROTEIN Proteins can then manifest as TRAITS The whole set of genes in a cell - GENOME

3 So Why Should We Be Bothered About Genes? Gene Mutation Changes in protein structure and function or no protein synthesized or synthesis of nonfunctional protein Change or loss of trait

4 The Human Genome Project Identify all the approximately 30,000 genes in human DNA and map them onto chromosomes Determine the sequences of the 3 billion chemical base pairs that make up human DNA Store this information in databases Improve tools for data analysis

5 Address the ethical, legal, and social issues (ELSI) that may arise from the project Map and sequence the genome of model organisms bacteria, yeast, fruit fly, roundworm and mouse Disseminate genome information among scientists and general public

6 Fun Facts about the Human Genome Project! International project Started in U.S. in 1990 Majority of work in U.S., U.K., Germany, and Japan Started by U.S. Department of Energy and NIH Completed in 2003 Still analyzed and checked today

7 Fun Facts about HGP! Estimated to cost about $3 billion dollars Every second, Human Genome Project computers decode 12,000 letters The entire human genome requires three gigabytes of computer data storage space 3 billion base pairs songs / 1 GB

8 How Can the Information From HGP Be Used? A better understanding of normal gene structure and function A greater ability to identify and treat genetic disorders Development of advanced screening techniques for diseased genes. Gene therapy is seen as an option now.

9 Consider this.. How Will All This Impact Us in the Future? As a result of HGP, we will have greater ability to diagnose, prevent and treat disease conditions But. Should we test for genetic diseases for which there is no cure Should we test unborn children for such a genetic defect? What are the acceptable consequences if parents learn that their child has a genetic defects?

10 Privacy of genetic information who should have access to your genetic information? Do you have the right to choose a genetically superior spouse? If genes are discovered for undesired traits, how will these genes be perceived in legal courts if criminals use genetics as their basis for a not-guilty plea???!!!

11 U.S. Patents Patents are rights or protection granted by the government for an invention, for a period of time. Invention: any new or useful object, process, machine, composition of matter or manufacture OR any improvements to existing objects, processes, machines, composition of matter or manufacture.

12 Patent Structure: Patents consists of 4 main parts: 1.Abstract (summary of invention) 2.Description (details) 3.Claims (monopoly of the inventor, fences ) 4.Drawings (not always present)

13 Patents & Biotechnology Patents sought to protect various (genetic) research projects Universities & Pharmaceutical Companies want to recoup research costs & to exclude others from working on gene of interest for a period of time. Can you think of any reasons why this would not be beneficial??

14 In Lab Today You will learn to appreciate the information that HGP has revealed. The information is accessible to the general public

15 Part I Researching a Human Disease Each student will choose a disease from the list (or one that is found on the NCBI website). Use the resources of NCBI and OMIM to answer the series of questions given in your handout If you cannot find the answer to the questions using NCBI & OMIM, then & only then, you may use the www (other reliable sources only!).

16 Part II- U.S. Patent Search Use Google Patents to locate any patents relating to your chosen genetic disease. Focus on one relevant patent that most interests you. Answer the questions given in the handout.

17 Post-Lab Assignment You will work individually. Professor Bratis students: use this lab to begin research for your genetic disorder presentation. The completed handout including the questions you answered regarding your disease & any patents, pages 50-56, will be due at the beginning of the next lab.

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