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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
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… 21 (FGF21), is extremely elevated in mice with liver disease that mimics the same condition in patients with … shed light on more common disorders such as fatty liver disease, obesity and diabetes by uncovering similarities in … they develop severe complications." MMA is a genomic disease that impairs a person's ability to break down food …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. … about gene variants and their connections to health and disease. These experts then determine what each variant might mean for disease diagnosis and treatment. Information on the gene …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… genomic make-up can affect gene activity and contribute to disease. The new resource will enable scientists to examine … can predispose people to diseases such as cancer, heart disease and diabetes. "GTEx was designed to sample as many … and which tissues contribute to predisposition to disease," said Emmanouil Dermitzakis, Ph.D., professor of …
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
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… of the study and senior investigator in the Genetic Disease Research Branch at NIH's National Human Genome … , co-author and staff scientist also in NHGRI's Genetic Disease Research Branch. Read the Study Loci associated with … variation in some African populations, furthering skin disease and cancer research in all populations. … Skin color …
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 …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's … Ellen Sidransky never thought she would study Parkinson's disease because it is not a disease a pediatrician … Gaucher gene is now known to be the most common genetic risk factor for Parkinson's disease. "It exonerated why you …