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News Release

Anti-inflammatory drug halts strokes in children with rare disease

NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).

… the risk of stroke in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease results when a malfunctioning gene hampers a person's ability to produce the enzyme ADA2 (adenosine deaminase 2). …

News Release

NIH scientists discover a rare neurological disease involving cellular recycling

Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.

… New disease could provide insights into how the cell’s recycling … findings in npj Genomic Medicine . Scientists from NIH’s National Human Genome Research Institute (NHGRI) and …

News Release

Decades after rare disease diagnosis, family and physician hail genomic breakthrough

In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.

… Jeannine Mjoseth … For many years, Tonya and Cody Hanson's parents didn't know what caused their children to have weak … the phlegm that had to be suctioned from each child's lungs every 15 minutes for the first three years of their … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya …

Event

Pre-Application Webinar: Multi-Omics for Health and Disease Consortium

NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008, RFA-HG-22-009 and RFA-HG-22-010.

… interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs). NIH … process: RFA-HG-22-008 : Multi-Omics for Health and Disease — Disease Study Sites (U01 Clinical Trial Not Allowed) …

Clinical Research

Acute Infection in Mitochondrial Disease

An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).

… implications of COVID19 in individuals with mitochondrial disease or their family members is unknown. Individuals with mitochondrial disease may be particularly at risk for decline associated … like genetic differences in individuals with mitochondrial disease who may be infected with COVID-19. Our goal is to …

News Release

Researchers discover a new autoinflammatory disease called CRIA syndrome

Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.

… have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published in … ruled out, they sought answers in the genome, a person’s complete set of DNA. Kastner and his team sequenced gene … for the RIPK1 protein, which is involved in the body’s response to inflammation and programmed cell death. To make …

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.

… revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. Their study … with APOL1 variants,” said Adebowale A. Adeyemo, M.B.B.S., who is a co-author of the study and is the deputy … Center for Research on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By …

Staff

William J. Pavan, Ph.D.

William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.

… Dr. William Pavan received his B.S. in animal science from the University of Massachusetts, … and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … develop paradigms for therapeutic interventions. Dr. Pavan's group first discovered the neural crest cell transcription …

News Release

ClinGen setting standards for when genes and their variants matter in disease

As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.

… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information … and associate professor of pathology at Brigham and Women's Hospital and Harvard Medical School, both in Boston. While … other investigators with the National Institutes of Health's Clinical Genome Resource (ClinGen) describe how the program …

News Release

NIH awards $50.3 million for “multi-omics” research on human health and disease

NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.

… of Health is establishing the Multi-Omics for Health and Disease Consortium , with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance … of multiple types of data from an individual participant’s biological sample can provide a more holistic view of the …