Integrating Genetics and Genomics into Medical Practice (Cichon)

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Wayne State University SOM MS1 Genetics

HUman Genetics

This is the study of biological variation in humans.

Medical Genetics

This is the study of human biological variation as it relates to health and disease.

Clinical Genetics

This is the provision of comprehensive diagnostic, management, treatment and counseling services to individuals and their families.

2003

When was the human genome sequenced?

1953

When was the structure of DNA elucidated?

Genetics

This is the study of genes and their role in inheritance.

Genomics

The study of an individual's genome, including interactions of those genes with each other and with the person's environment.

25,000

How many genes are found in the human genome?

3 billion

How many base pairs are found in the human genome?

Trauma

The only type of medical condition physicians treat that does not involve genomic factors.

Structure of genome (genes and base pairs), spurred the discovery of over 2500 diseases, advanced the processof disease gene identification, development of over 350 biotechnology products, Human HapMap project and the ELSI research program.

What are some things that came out of the human genome project?

Ethical, LEgal and Social implications research program. It examines ethical, legal and social issues related to the human genome research.

What is the ELSI and what does it do?

Database of human variants using 11 global populations to study genetic factors contributing to variation in response to environmental influences, in susceptibility to infection and the effectiveness of drugs and vaccines.

What is the HapMap project?

Genomic Wide Association Studies which is a rapid scan of the genomes for genetic variants for specific disease-useful to identify variants in complex diseases.

What is the GWAS?

Complement factor 4 related to macular degeneration

What is GWAS's first big success?

Family history

What is the number one diagnostic tool for genomic disease?

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