Search Results
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… Neck Surgery  Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
Fact Sheet
Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.
… disease in humans, including: Acquired immunodeficiency syndrome (AIDS) Viral agent: Human immunodeficiency virus …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Inborn Errors of Metabolism, cystinosis, Hermansky-Pudlak syndrome, Undiagnosed Diseases Program Fizza Gulamali-Majid, … Wendy Introne, M.D. Alkaptonuria, Chediak-Higashi syndrome Eirini Manoli, M.D., MPH Organic acidemias, Moebius syndrome Melissa Merideth, M.D., MPH Gynecologic aspects of …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… researchers identify an altered gene that causes Pendred Syndrome, a inherited form of deafness. 1998 March 1998: Vice … chromosome 21, already known to be involved with Down syndrome, Alzheimer's disease, Usher syndrome and Lou … the gene that causes the premature aging disorder progeria . The findings were released online in the journal …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… disease, as well as less common conditions such as Marfan syndrome ( Learning About Marfan Syndrome ) and neurofibromatosis ( Learning About …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… and discovering the genetic basis for a recurrent fever syndrome named TNF receptor-associated periodic syndrome (TRAPS). Dr. Kastner has won numerous awards and …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… they named TRAPS (the TNF receptor-associated periodic syndrome), and proposed the now widely accepted concept of … and that the gene mutated in the dominantly-inherited syndrome of pyogenic arthritis, pyoderma gangrenosum, and … cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome. Current investigations focus on the use of genomic …
Infographic
The X chromosome determines your sex, gives some females super color vision and lends its magic to a certain breed of cat.
… can lead to a number of diseases. For example, trisomy X syndrome  is caused by the presence of three X chromosomes instead of two. Turner syndrome  occurs when women inherit only one copy of the X …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… by abnormal imprinting. They include Beckwith-Wiedemann syndrome, a disorder associated with body overgrowth and increased risk of cancer; Prader-Willi syndrome, associated with poor muscle tone and constant hunger, leading to obesity; and Angelman syndrome, which leads to intellectual disability, as well …
File
… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …