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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… genes and genomic variants underlying human inherited disease across its full spectrum, including rare diseases … program targets the genomic bases of common, rare disease . A brief history of the sequencing program is … from other NIH institutes for work in particular disease areas. At present, the National Heart, Lung and Blood …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… because the test is the same no matter what inherited disease the patient has," said Dr. Biesecker. The genome is a … that form the blueprint for every characteristic - and disease - that define a person. But for health care … teach practical skills for applying computational tools to disease-gene discovery, patient genome interpretation and big …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… understand the function of the human genome in health and disease, and seeks technologies that facilitate genomic … a fuller understanding of the genomic basis of human disease. She will be responsible for overseeing the funding … These research programs are integrating information about disease-causing genomic variants and insights about genome …
News Release
NIH expands its Encyclopedia of DNA Elements Project, which is creating a fundamental genomics resource scientists to study human health and disease.
… resource used by many scientists to study human health and disease. … "ENCODE has created high-quality and easily … people that are using the ENCODE resource are doing so for disease studies, and this attests to its translational … the genome for understanding both human health and disease," he said. Analyzing the catalog: the computational …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… Diseases Network: Accelerating Discovery about Health and Disease [cell.com], the online version of the American … Diseases Network: Accelerating Discovery about Health and Disease [cell.com] The Undiagnosed Diseases Network The … ​ … Undiagnosed Diseases Network, UDN, diagnosis of rare disease, guide to rare disease diagnosis … UDN members have …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… genomics can be used to help diagnose diabetes, keep heart disease patients out of hospitals and guide cancer clinicians … in Care and Treatment (PREDICT) tests potentially at-risk patients for variants that are associated with drugs for … monogenic diabetes, and understanding their role in disease development - as well as how to assure optimal …
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
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… are susceptible to various diseases. … Powerful Clues for Disease Susceptibility While most differences in peoples' … to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders. Understanding how genomic … how inherited differences in DNA can contribute to disease risk and drug response. Of the more than 88 million variable …
Staff
Jyoti Dayal is a program officer in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI)
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… researchers have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome … to significantly increase the number of known Mendelian disease genes by implementing new genome-sequencing …