Search Results
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… Disease, Type C1. His preclinical proof-of-principal studies using MMA murine models have helped enable two … mRNA therapy and the other, AAV-mediated nuclease-free genome editing. In addition, he is a member of NCATS’s … gene therapy approaches, such as AAV gene delivery, genome editing, and mRNA therapy, to cure rare genetic …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… Burgess, Ph.D., senior investigator in the National Human Genome Research Institute’s (NHGRI) Translational and … had to look at the enhancer sequences within the zebrafish genome.  If transcription factors are thought of as the keys … The study, led by investigators at the National Human Genome Research Institute (NHGRI), may inform the development …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… gene therapy for humans. Researchers at the National Human Genome Research Institute (NHGRI), part of NIH, published … gene therapy applications. But one prior study did find an association between AAV and the occurrence of liver cancer. … when the disease progresses. In prior MMA gene therapy studies, researchers showed that mice bred to develop the …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each … word.  … An organism's complete set of DNA is called its genome. Virtually every single cell in the body contains a … that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… … A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional … The current standard "best practice" in some clinical genome sequencing laboratories requires positive NGS findings … more accurate than newer methods." In addition, several studies in recent years have suggested that NGS can identify …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… Metabolic Genetics Branch (MGMGB) at the National Human Genome Research Institute (NHGRI) and corresponding author of … and bioinformatic challenges facing individualized genome sequencing in a clinical research setting. Once they … … Genetic mutations and disease, predictive medicine studies, Leslie Biesecker M.D., genetic mutations in healthy …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… , is the first to use both dense genotyping and whole-genome sequence data to explore the genomic-variation … have carried out only a modest number of genome-wide association studies, or GWAS, using continental African …
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
… difference between 2018 and 15 years ago when the Human Genome Project was completed, is that genomics is now used … "flu shot." Even so, just one mutation in the virus's genome can make a big difference in the severity of someone's … next generation. Now that we can track various microbes' genome sequences very accurately, we can see that antibiotic …
News Release
Using a virtual reality buffet, researchers studied the hundreds of small decisions mothers make while selecting food for their children.
… to make healthier choices. The findings, by National Human Genome Research Institute (NHGRI) researchers, were published … approach to assess research participant behavior in future studies using the VR buffet. "We hope that this work will …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… p.m. Current State of the Art in Variant Discovery and Association Amit Khera Laura Bierut Jonathan Haines 12:10 - … 23, 2019 8:00 - 8:15 a.m. Introduction: Variant and Genome Function NHGRI Staff 8:15 - 9:00 a.m. Current State of … is needed to overcome barriers to performing functional studies at scale? 10:15 - 10:30 a.m Breakout Session Charge …