May 2008 is National Neurofibromatosis Month in the United States. The neurofibromatoses are genetic disorders of the nervous system that affect the development and growth of nerve cells. These disorders ... Read More

Lesch-Nyhan syndrome, a genetic disorder, causes a deficiency of an enzyme. This leads to a toxic build-up of uric acid in the body, which affects the kidneys, joints, and nervous ... Read More

There is a group of cancers known as the Ewing family of tumors. Ewing sarcoma affects about 2 in 1 million children per year and 5 or 6 in 1 ... Read More

As you may know, Senator Ted Kennedy (D-Mass) was rushed by air ambulance to Massachusetts General Hospital in Boston on Saturday, May 17, 2008, after suffering a seizure at his ... Read More

Jackson-Weiss syndrome is a genetic disorder that causes distinctive birth defects of the head, face, and feet. Mutations in the FGFR2 gene cause the disorder. It is not known how ... Read More

The 4th International Conference on Rare Diseases and Orphan Drugs (ICORD) will be held May 20-22, 2008, in Washington, DC, in honor of the 25th anniversary of the Orphan Drug ... Read More

Mucopolysaccharidoses (MPS) are a group of genetic lysosomal storage diseases caused by the body's inability to produce specific enzymes. May 15, 2008, is International MPS Awareness Day. The National MPS ... Read More

Brown-Vialetto-Van Laere syndrome, also known as pontobulbar palsy with deafness, is a nervous system disorder that sometimes runs in families. Only 58 cases have been reported in the worldwide medical ... Read More

The First International Meeting of Moebius Syndrome will be held May 16-17, 2008, in Valencia, Spain. Moebius syndrome includes facial paralysis, low muscle tone, and hand and foot deformities. The ... Read More

The Genetic Information Nondiscrimination Act of 2007 was created to prohibit discrimination on the basis of genetic information with respect to health insurance and employment. For example, a health insurance ... Read More

Norrie disease is an inherited disorder that leads to blindness at birth or soon after, hearing loss, and developmental delay. Mutations in the NDP gene on the X chromosome cause ... Read More