genetics

Familial Hyperinsulinism affects insulin levels, which in turn affects blood glucose levels. Patients with the condition release too much insulin. Too much insulin causes blood glucose levels to drop, leading to hypoglycemia.

Torsion Dystonia is a progressive genetic disorder that causes painful and debilitating muscle contractions. The most common form of the disease is early-onset with symptoms appearing in childhood.

Tay Sachs disease is caused by a defective gene on the 15th chromosome.
Both parents must have the defective gene to pass the active disease to a
child. If both parents carry the defective gene, children have a 25%
chance of having an active form of Tay Sachs.

Neiman Pick disease is a group of genetic diseases. There are five types
of the disease, types A, B, C, D and E. Each type of Neiman Pick
affects different organs, but all affect cholesterol storage, fat
storage or both.

Machado Joseph disease is a genetic disorder affecting muscle movement and development. Unlike many other genetic diseases, only one parent needs to carry the gene to pass the condition onto children.

Mucolipidosis IV is a rare genetic disorder passed down from parents to children. Both parents must carry the recessive gene for children to be affected. About 95% of people with Mucolipidosis IV have the typical or severe strain.

Fanconi Anemia is a genetic disorder that affects the bone marrow’s
ability to produce new or healthy red blood cells. Both parents must
carry the affected gene to pass the disorder onto their children.

Familial Mediterranean Fever (FMF) is a genetic disorder passed down
from parents to children. The disease causes high fevers and bouts of
inflammation.

Familial Dysautonomia, also known as Riley-Day syndrome, affects the development and function of nerves throughout the body.

Factor XI deficiency is a blood clotting disorder similar to hemophilia.
There is a wide variance in symptoms with mild, moderate and severe
cases.

Fabry Disease is a genetic disorder passed along to children from the
mother. The gene for the disorder is carried on the X chromosome.

Crohn’s Disease is an inflammatory autoimmune disorder.
Typically, the body can tell the difference between native and foreign
substances, but patients with Crohn’s Disease lack this ability.

Canavan Disease is a genetic disorder commonly found in Ashkenazi Jews.
The disease causes a premature breakdown of white matter in the brain.
The disease is associated with chromosome 17.

Bloom Syndrome is a rare genetic disorder first recognized and described by Dr. David Bloom. Another name for Bloom Syndrome is Bloom-Torre-Machacek Syndrome.

There are nearly 4,000 genetic diseases known that afflict the world’s population. Certain genetic diseases occur at higher frequencies among certain ethnic, racial, or demographic groups.