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News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
Research Funding
MorPhiC aims to develop a consistent catalog of molecular and cellular phenotypes for null alleles for every human gene by using in-vitro multicellular systems.
… of California, San Francisco Spatial multiomic mapping of gene function with CRISPRoff UM1 HG012660 Data Resource and … Hutchinson Cancer Center Statistical Methods for Inferring Gene-Phenotype Associations Using Omic Data from Gene Knockout and Human Phenotype Studies U01 HG013177 … The …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… transformative discoveries are made. We would identify a gene from a screen or from observing a trait in an animal model, and then we explored what that gene did. That would often take us into a system or field … Branch that focused on understanding genome function and gene pathways in development and disease. As head of the …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… GTEx data release represents the largest atlas of human gene expression and catalog of trait loci to date. … Launched … the human genome. Understanding how the eQTLs change gene behavior in different tissues can help us understand how … have been collected. In fall of 2015, information on gene expression for over 450 donors was released to the …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation … to develop standard processes for reviewing data about gene variants and their connections to health and disease. … for disease diagnosis and treatment. Information on the gene variants is stored in ClinVar, which is funded and …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… may include surgery to remove the kidney, radiation therapy and chemotherapy. Aniridia: The treatment of aniridia … kidney transplant. … WAGR syndrome is called a "contiguous gene deletion syndrome." This means that it is caused by the … of the baby's development in the womb. More rarely, the gene changes are inherited because one of the parents carries …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. Credit: Harry Wedel, NHGRI. Researchers at the …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… Human Genome Research Institute (NHGRI), who analyzed gene activity of immune cells in children with mitochondrial … called single-cell RNA sequencing, which analyzes gene activity in different cell types, researchers studied … mitochondrial disorders … NIH researchers analyzed the gene activities of immune cells in children with …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 … variation outside of protein-coding regions can influence gene expression. The ENCODE Project began in 2003, shortly …