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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal … Research Branch at NHGRI and senior author of the study. In a recent study in the journal Public Health Genomics , the …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… clinicians are beginning to offer patients genomic testing for a list of treatable diseases apart from the one that brought … medicine requires people to confront health decisions in new and unique ways, which must be reflected in the …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a gene editing … that researchers have harnessed to explore two approaches for reducing the burden of the disease. The first approach … for the success of clinical trials and implementation of new genetic curative therapies, into clinical treatment," …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… Neil Hanchard, MBBS, D.Phil. , how he decided to become a scientist, he says that it was a complete accident. … Dr. Hanchard is now a senior investigator in the Center for Precision Health Research and head of the Childhood … the human genome. The timing was perfect for Dr. Hanchard; new discoveries about the human genome would be revealed by …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… determined that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also … FMF-causing genomic variants have been positively selected for in Mediterranean populations over centuries. The findings … in human populations over time. "In this era of a new pandemic, understanding the interplay between microbes …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… NIH study suggests potential for earlier health interventions for people with West African ancestry. … A study from researchers at National Institutes of Health … of chronic kidney disease. The study is published in the New England Journal of Medicine and was conducted by …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Prabarna Ganguly, Ph.D. … Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … The … (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and … and integrated NHGRI environment is the perfect place for further exploration of these disorders,” said Dr. …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – 5:45 p.m MTCC-701 Analysis of … ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes … Outcomes Following Gene Therapy for GM1 Gangliosidosis: New Biomarker for Neurodegenerative Disorders P204 Primary …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… to cancers. … Sonja Soo: What inspired you to become a scientist? Joan Bailey-Wilson: The first time I remember … was when I was in the first grade. I did a demonstration for the parents that had a hot plate with boiling water on … risk, which was groundbreaking. Later, we invented new methods that would allow us to include environmental risk …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… are increasingly using genomic data in the clinic for diagnosing rare health conditions. But for common health … be applied in the healthcare system and understand whether introducing this information will influence how a doctor might view a patient and make medical …