Best New York Geneticists

Tay-Sachs Disease
Tay-Sachs disease (TSD) is a fatal genetic disorder. It occurs when a fatty substance builds up in the brain. This causes progressive destruction of the brain. There are three forms: Infantile-onsetJuvenile-onsetAdult-onset Given the best of care, all children with the infantile form die by the age of five.

Hemophilia
Hemophilia is a group of bleeding disorders. It is caused by low amounts of specific clotting factors. These factors help to stop bleeding.

The most common types of hemophilia are: Hemophilia A (classic hemophilia)-accounts for 80% of all hemophilia (1 in 5,000 males), caused by too little factor VIIIHemophilia B (Christmas disease)-occurs in 1 in 25,000 males, caused by too little factor IX

Down Syndrome
Down syndrome (DS) is a common genetic disorder. It results in birth defects, medical problems, and some degree of Intellectual Disability

Cystic Fibrosis
Cystic fibrosis (CF) is an inherited disease. The defect occurs in epithelial (lining) cells. These cells normally create a mucus. The mucus is a vital tool for many organs. CF causes the cells to produce a very thick and rubbery mucus. This most commonly causes: Obstructions and infections of the lungs and airwaysMalabsorption in the gastrointestinal system (stomach and intestines)

Crohn's Disease
Crohn's is a severe, chronic inflammatory bowel disease. It causes inflammation, Peptic Ulcer , and bleeding in the digestive tract. It usually affects the end portion of the small intestine called the ileum. However, any part of the digestive tract can be affected, from the mouth to the anus.

Alzheimer's Disease
Alzheimer's Disease is a chronic, slowly progressive, gradual in onset, irreversible condition that destroys brain nerve cells and other structures in the central nervous system. People with Alzheimer's disease slowly develop Dementia-a loss of memory and intellectual and social skills that result in confusion, disorientation, and the inability to think, reason, and understand. The decline in cognition and memory results in activities of daily living to performed with increasing difficulty.

Turner Syndrome
Turner syndrome is a genetic disorder that consists of a broad spectrum of features that vary in individuals, but usually have the common findings of short stature (average adult height: 4 feet 8 inches) and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.

Crouzon Syndrome
Crouzon syndrome is a genetic disorder. It is one of many birth defects that results in abnormal fusion between bones in the skull and face. Normally, as an infant's brain grows, open sutures between the bones allow the skull to develop normally. When sutures fuse too early, the skull grows in the direction of the remaining open sutures. In Crouzon syndrome, bones in the skull and face fuse too early. This results in an abnormally shaped head, face, and teeth.

Polycystic Kidney Disease
The word polycystic means many cysts. Polycystic kidney disease (PKD) is an inherited disease that causes many cysts to form in the kidneys.

Cysts, which are sacs filled with fluid, grow in both kidneys causing them to become enlarged. The number of cysts can range from a few to a great number. The size of the cysts can vary from too small to detect, to cysts larger than the kidney itself.

Color Blindness
Color blindness usually affects a person's ability to distinguish between shades of red and green or between shades of blue and yellow. Complete color blindness, which is very rare, causes a person to see most objects in shades of gray.