Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… for diverse populations. Curriculum Vitae … Dr. Adeyemo's research is on the genetic epidemiology of complex diseases … major public health and clinical significance. Dr. Adeyemo's research has focused on the genetic risk factors for these … loci ( HLADQA1 and PLCG2 ) for steroid-sensitive nephrotic syndrome (PMID 25349203) were reported in his collaborative …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… Alyssa Jones … Media Availability NIH Director Francis S. Collins, M.D., Ph.D., available to discuss this major … advance for rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has approved the first … Progeria, also known as Hutchinson-Gilford progeria syndrome, is a rare, multisystemic disease that causes …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… that would take advantage of the NIH Clinical Center's resources, be likely to result in important scientific … to characterize the rate of mutations that lead to Sjögren's syndrome. Sjögren's syndrome is a chronic autoimmune disease …
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 …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… beyond. Other participating institutions include Children's National Hospital in Washington DC, Kennedy-Krieger … of rotations will be at the NIH, three months at Children's National Health System (CNHS), one month in a biochemical … Inborn Errors of Metabolism, cystinosis, Hermansky-Pudlak syndrome, Undiagnosed Diseases Program Fizza Gulamali-Majid, …
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.
… a summary of the research project (including the study's purpose, research procedures, potential benefits and risks, etc.) and explains the individual's rights as a research participant. This document is part of … disease, as well as less common conditions such as Marfan syndrome ( Learning About Marfan Syndrome ) and …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… form of progeria is called Hutchinson-Gilford progeria syndrome (HGPS), named for the doctors who first described …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… "Sammies." Each year, the Sammies pay tribute to America's dedicated Federal workforce, honoring those who have made … be streamed live on the Partnership for Public Service's Facebook and Twitter  accounts beginning at 6:30 p.m. … and discovering the genetic basis for a recurrent fever syndrome named TNF receptor-associated periodic syndrome …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Genetics Branch. Throughout his career at the NIH Dan’s research has focused on using genetic and genomic … informed our understanding of more common illnesses. Dan’s group also proposed the now widely accepted overarching … they named TRAPS (the TNF receptor-associated periodic syndrome), and proposed the now widely accepted concept of …
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.
… of the DNA. Rather, they change the way cells use the DNA's instructions. The marks are sometimes passed on from cell … proteins, which form spool-like structures that enable DNA's very long molecules to be wound up neatly into chromosomes … by abnormal imprinting. They include Beckwith-Wiedemann syndrome, a disorder associated with body overgrowth and …