Researchers from the Mayo Clinic and 12 other institutions working together have identified a gene on chromosome 8 that is involved in Meckel-Gruber syndrome, an inherited kidney disorder. In Meckel-Gruber ... Read More

Dyskeratosis congenita is a genetic skin condition characterized by network-like dark patches, abnormal nail growth, lesions in the mouth, and progressive bone marrow failure. Studying dyskeratosis congenita has increased researchers’ ... Read More

University of Missouri School of Medicine researchers conducted a retrospective study of 41 adults they had seen from 1994 to 2001 who were affected by cyclic vomiting syndrome (CVS), a ... Read More

Researchers at the Medical College of Georgia studied children with sickle cell anemia at risk for stroke who received regular monthly blood transfusions. The transfusions had been shown to reduce ... Read More

Two studies conducted by researchers at University of California-Los Angeles (UCLA) examined the accuracy and cost-effectiveness of screening newborns for severe combined immunodeficiency disorder (SCID, sometimes called "bubble boy disease"). ... Read More

Costello syndrome is a very rare disorder that affects multiple systems of the body, causing short stature, characteristic facial features, growths around the nose and mouth, and heart problems. The ... Read More

University of Wisconsin-Madison researchers have authored a study of cellular activity in Krabbe disease, a neurological disorder. Their research, published in the December 12, 2005, issue of Proceedings of the ... Read More

In a study published in the December 14, 2005, issue of Journal of Neuroscience, a multi-institutional research team, led by the University of Chicago, described their work understanding the breathing ... Read More

At the 45th Annual Meeting of the American Society for Cell Biology, held in December 2005 in San Francisco, researchers from Northwestern University's Feinberg School of Medicine presented the results ... Read More

Author Mary Shomon, a thyroid patient herself, is a nationally-known thyroid patient advocate and has written several books dealing with thyroid disease. Her most recent book, Living Well With Graves' ... Read More

Genetic testing for rare diseases is essential in the diagnosis and medical care of individuals with inherited diseases and their families. Much research is being done on the genetics of ... Read More

The diagnosis of fetal alcohol syndrome (FAS) in a child is usually made through the presence of facial features and other symptoms. Currently there are no objective diagnostic tests to ... Read More

Kelley Sperry is a teenage girl living with Parry Romberg syndrome. Her story, first published on the Rare/Orphan Diseases site in 2001, has touched many people and provided awareness of ... Read More

In the November 16, 2005, issue of Journal of Neuroscience, researchers at the University of California, San Diego (UCSD) report the development of a series of transgenic mouse models of ... Read More

Researchers at Duke University Medical Center have been studying scleroderma, an autoimmune disorder which causes degenerative disease in body tissues. Using mice with transplanted skin from individuals with scleroderma, they ... Read More

Take a look at major developments in orphan drug research in 2005 and how these trends are expected to continue in 2006.