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News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… of lab results with uncertain findings about whether a gene or variant is disease-causing," said Jonathan Berg, … basic questions: Is there a true relationship between a gene and disease? Does the genetic variant in a gene cause or contribute to disease? For a person who has one …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… Developmental biologists have been able to do single-cell gene expression profiling on whole tissues. If we apply those … do you see as the most exciting future opportunities in gene therapy?  Bodine: When we founded the American Society of …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is … using a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty … then investigated which of these potentially bad gene variants contributed to the patients' undiagnosed …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… Our investigators and their research teams develop gene addition therapy and gene editing approaches to treat metabolic disorders, study …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
… of Health researchers have identified a novel role for a gene known as heat shock protein 60 ( Hsp60 ), finding that … "This study proposes an unusual role for a well-known gene," said Shawn Burgess, Ph.D., head of NHGRI's … today in the journal npj Regenerative Medicine . "This gene is found in every organism from bacteria to man. We have …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… Zisk … The project will increase our understanding of how gene expression is regulated over time. … Eleven years ago, … of high-quality tissue samples and information on gene expression — important resources that scientists needed … It also established a resource for researchers to explore gene expression in many different tissues to understand the …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… also allowed them to study the response to liver-directed gene therapy and to compare the findings in patients after liver … tests presented in the study in the design of upcoming gene-based clinical trials that the lab has worked on for …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … symptom – canker sores. The group looked into whether the gene variants known to be associated with those diseases were … and canker sores. The strongest association was with the gene IL12A , which encodes an inflammation-related protein …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of … are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is … treatment available for fragile X syndrome. Supportive therapy for children who have fragile X syndrome includes: …
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.