Track 18: Genetics

What is Genetics

Genetics is the branch of biology that studies genes, heredity, and the variation of organisms. It focuses on understanding how traits and characteristics are passed down from one generation to the next through DNA. Genetics explores the role of genes in health and disease, offering insights into conditions caused by genetic mutations or abnormalities. This field plays a crucial role in advancing medical research, leading to the development of genetic testing, personalized medicine, and targeted therapies that address specific genetic profiles.

What Do Geneticists Do

Geneticists are scientists or clinicians who specialize in the study of genes and their impact on health. They analyze genetic data to identify mutations or variations that may cause or influence diseases. In clinical settings, geneticists provide genetic testing, diagnose genetic disorders, and offer counseling to patients and families about inherited conditions. They work closely with other healthcare professionals to develop personalized treatment plans based on an individual's genetic makeup, often involving pharmacogenomics or gene therapy. Geneticists also contribute to research that advances our understanding of genetics and its role in human health.

Genetic conditions

Tay-Sachs disease

A mutation on chromosome 15.19 causes a buildup of fatty acids in the brain that destroys nerve cells. 

Duchenne muscular dystrophy

A genetic mutation on the mother's X chromosome prevents the production of dystrophin, a protein that protects muscle fibers. 

Familial hypercholesterolemia

Inherited mutations in the LDLR, APOB, and PCSK9 genes affect how the body regulates cholesterol. 

Fragile X syndrome

A mutation in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome. 

Huntington's disease

A mutation in the gene for the Huntingtin protein causes the DNA building blocks cytosine, adenine, and guanine (CAG) to repeat too many times. 

Down syndrome