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Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… Toronto, Canada. She has been at the National Institutes of Health since 1994, first at the National Institute of … to positional cloning to functional genomic analyses using animal models. She has participated in several collaborative …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a global effort to raise awareness of rare diseases. …
Staff
Dr. Shawn Burgess is the deputy director of NHGRI's Intramural Research Program.
… Ph.D. in genetics from the Johns Hopkins University School of Medicine, where he studied the genetics of mitochondrial … deafness will also be targeted, in order to create new animal models relevant to one of the most common health problems in …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects … diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one … important to keep in mind that genetics are just one piece of the puzzle. Environmental factors, such as diet, smoking, …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… Steven Benowitz … The National Institutes of Health (NIH) recently awarded approximately $6.8 million … explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … Center, scientists use zebrafish and fruit flies as models to examine how differences in the DNA code - called …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, … disease (or condition), when discussed in the context of genetics, reflects a disorder that results from the …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… with fewer than 200,000 people diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment approved by the FDA . … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR) - two agencies at the National Institutes of Health (NIH). GARD provides immediate, virtually … and teachers who work with people with a genetic or rare disease. Even scientists who are studying a genetic or rare …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. … CMT is an …