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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, …
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 …
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 …
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 … they named TRAPS (the TNF receptor-associated periodic syndrome), and proposed the now widely accepted concept of … Patronas NJ, Barber JS, Lee C-CR, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin J, Ganson NJ, Kong HH, Hambleton S, …
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.
… 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 …
File
… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …