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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 …
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.
… things. Viruses cause damage by hijacking a host cell's machinery to make copies of themselves, often disrupting … its nucleic acid material interferes with the host cell's functions, essentially hijacking the proteins and other … 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.
… 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 …
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 …
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 …
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 …
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… Understanding pharmacogenomics, or tailoring a person's medications based on their genome, would not be possible … our bodies' pathways involved in changing the medicine's form or in getting medicines to the right places. For … example of such an adverse reaction is Stevens-Johnson syndrome (SJS), a severe allergic reaction also called …