Search Results
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
Media Advisory
The NIH-funded Integrative Human Microbiome Project presented at the International Human Microbiome Congress.
… birth. Other session speakers will discuss potential therapeutics using the microbiome, including a talk …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease. Disease Models & …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… mouse model has also been used to develop and test new therapeutics and should be useful for the wider study of …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… This recognition may point the way toward more effective therapeutics with fewer unexpected side effects. Recipients …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
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.
… Institutes of Health (NIH) launched an effort, called the Therapeutics for Rare and Neglected Diseases program , to …