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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 … independently discovered the gene variant that causes the disease using a genomic technique called whole exome …

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 … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known … scientists had yet to connect ATG4D to any neurological disease in humans. “Among genetic diseases, we’ve solved many …

Research Training

Maternal Fetal Medicine and Medical Genetics Fellowship

This program offers training in a combined program of maternal-fetal medicine and medical genetics.

… anomalies and the impact of genetic and metabolic disease on healthy and high risk pregnancies. The four year … a complementary training program in the genetic basis of disease, both adult and pediatric, including cytogenetic, … Prenatally Diagnosed Anomalies, Genetic And Metabolic Disease, Healthy Pregnancies, High-risk Pregnancies, …

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.

… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five … of Health." Sadly, Tonya Hanson developed restrictive lung disease and died of pneumonia when she was 37 years …

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 … has characteristics typical of an autoinflammatory disease, where the immune system appears to be activated … relationship, Kastner’s team named the resulting disease cleavage-resistant RIPK1-induced autoinflammatory …

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 … can significantly increase the risk of developing kidney disease. APOL1 is important for the immune system and … of the gene are linked to increased risk of chronic kidney disease. The study is published in the New England Journal of …

Staff

William J. Pavan, Ph.D.

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

… and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … as well as the lysosomal storage disorder Niemann-Pick disease, Type C. By integration of basic science research … discover the alterations in these pathways that lead to disease and develop paradigms for therapeutic interventions. …

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 about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate disease surveillance strategies, and provide better, tailored …