Advances in Genetics and Molecular Medicine: Impact on Deafness and NTID

1. Advances in Genetics and Molecular Medicine: Impact on Deafness and NTID Research Department Brown Bag Series February 15, 2010

2. Human Gene Mapping: Why so Difficult? • Humans are lousy a species for classical genetic research. • Almost nothing was known about the genetic map. • Back lash from the eugenics movement. • Magnitude of the Project. • Lack of appropriate tools and technology

3. Mapping Analogy Geography/Genome

4. Basic Research Discoveries • In vitro method of mapping human genes. • Discovery of Restriction Enzymes and methods for cloning DNA. • Polymerase Chain Reaction (PCR). • Restriction Fragment Length Polymorphisms. • Automated DNA Sequencing Methods. • Funding.

5. Goals of the Human Genome Project • identify all the approximately 20,000-25,000 genes in human DNA, • 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, • transfer related technologies to the private sector, and • address the ethical, legal, and social issues (ELSI) that may arise from the project.

6. Molecular Medicine: Gene Testing Common Uses: Carrier Screening Preimplantation Prenatal Diagnosis Newborn Screening Presymptomatic – Adult Onset Presymptomatic – Risk Assessment Confirmation of Diagnosis Forensic/Identity testing

7. Molecular Medicine: Gene Therapy Uses: Replacing an abnormal gene Insertion of a normal gene Repair an abnormal gene Altering gene regulation

8. Molecular Medicine: Pharmacogenetics Uses: • More effective medicines • Safer drugs • More accurate drug dosages • Better vaccines • Drug discoveries • Reduction in health care costs.

9. Ethical, Legal, Social Issues • Privacy and confidentiality of Genetic Information. • Fairness in the use of genetic information, e.g. Insurers, employers, courts • Reproductive issues, e.g. effective informed consent, use of genetic information in reproductive decisions. • Uncertainty with gene tests for susceptibility to complex conditions. • Fairness in access to advanced genomic technology. • Philosophical and conceptual implications for human responsibility – free will vs. determinism; Concepts of health and disease. • Commercialization of products, e.g. patents. • http://www.genome.gov/27535101

10. Genetic Information Nondisclosure Act (GINA) Fifteen Years in the Making Passed in May, 2008; in place October, 2009. • May not Use Genetic Information for Risk Selection or Risk Classification Purposes • May not Require Genetic Tests/Genetic Information • May not Establish Rules for Eligibility based on Genetic Information • May not Disclose Information Without Informed Consent

11. Genetics and Deafness Estimates: 250,000,000 people world-wide have some level of hearing loss; 50% of individuals with hearing loss have a genetic basis. Nonsyndromic hearing loss (70%) hearing Autosomal recessive Autosomal dominant X-linked Mitochondrial Syndromic hearing loss (30%) Recessive Dominant

12. Examples

13. Eugenic Movement in USA

14. Shades of Eugenics in USA