Search Results
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Diseases Network (UDN), a clinical research initiative of the National Institutes of Health (NIH), has opened an online patient application portal called the UDN Gateway. Introduction of this application system sets the stage for the network to … Anastasia Wise, Ph.D., program director, NHGRI Division of Genomic Medicine and co-coordinator for the NIH Common Fund's …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… A dozen awards from the National Institutes of Health will support research that incorporates DNA … and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual … by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … in the 19th and early 20th centuries were proponents of such ideologies. By the mid-20th century, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… A team from the National Institutes of Health has surmounted a major obstacle to testing … therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … for Advancing Translational Sciences (NCATS), both parts of NIH, reported in the June 11, 2014, issue of Science …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for … Accomplishments in Genomic Medicine (OLD) … The NHGRI Genomic Medicine Working Group has compiled a list of …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… Infection and Immunity (MINI) Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … receive immune therapies and some do not. The purpose of this study is to understand how widespread these therapies …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced the phlegm that … child's lungs every 15 minutes for the first three years of their lives. … Thirty-five years later, researchers have identified the genomic mutations responsible for CFZS (<a …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… For the first time, National Institutes of Health (NIH) researchers have demonstrated in mice that … correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 gene into mice with the disease; the treated …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were … "The discovery of new genes associated with ECD provides hope for improving …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… "This primer illustrates how rapidly the use of genome sequencing has moved into clinical practice," said … These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last … implements technology to understand, diagnose and treat genomic and genetic diseases. The NHGRI Extramural Research …