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Educational Resources
Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule.
… Gene Expression … Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule. … … which the information encoded in a gene is turned into a function. This mostly occurs via the transcription of RNA …
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.
… of Health (NIH) researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with roles in endurance, heart function, blood flow and pain perception. What terriers … researchers have identified about 200 germline mutations - gene variants that can be passed on to subsequent generations …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data.
… in the RFA, individual projects collect genomic data on gene expression, as well as surrogate markers of regulatory … in different cell fates or cell states. They use the gene expression and functional element data to construct gene regulatory network models, taking advantage of the …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… Cancer-Susceptibility Gene … A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare … humans, hoping their findings may eventually help improve gene therapy for humans. Researchers at the National Human … Journal of Clinical Investigation . … "Effective and safe gene therapies have the potential to dramatically reverse …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design … the scientific evidence from research papers to place gene-disease relationships into “definitive,” “strong,” … for the clinical genomics community regarding which gene-disease pairs have sufficient evidence to be used …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… can call attention to an otherwise missed diagnosis or gene variant that alerts the doctor whether one ultrasound or … power. To address this challenge, NHGRI is funding new grants - the Institutional Training Grant Program in Genomic … skills for applying computational tools to disease-gene discovery, patient genome interpretation and big data …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… to go for a university job where I would have to write grants and teach on top of doing science. When NHGRI was … transformative discoveries are made. We would identify a gene from a screen or from observing a trait in an animal … Research Branch that focused on understanding genome function and gene pathways in development and disease. As …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate … for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in partnership … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …