Search Results
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … It is present at birth in 1 in 400 to 1 in 1,000 babies, and it affects approximately 400,000 people in the United …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… is helping us understand what makes each of us different and what makes us the same. … Project, researchers began developing tools to detect genomic differences between people. When scientists agreed to … today, researchers are still discovering new types of variants  within human genomes. Human genomic variation is …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse systems to …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… integration of environmental exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … Multi-Omics at the Intersections of Environment, Diabetes, and Kidney Disease: A Multi-Omics for Health and Disease … The Multi-Omics for Health and Disease Consortium aims to advance the application of …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… Secondary Genomic Finding … A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s … A secondary genomic finding refers to a genomic variant, found through … that could change the medical management of that patient and potentially prevent or more effectively treat the disease. …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Since then, it has expanded to include several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … or localized inflammation, without evidence of infection and without the high antibody titers or antigen-specific …
Staff
Dr. Daniel Gilchrist is a program director of Computational Genomics and Data Science in NHGRI's Division of Genome Science.
… a portfolio of grants focused on functional genomics and computational genomics and data science. He is also part of the NHGRI team managing … works towards systematic understanding of the effects of genomic variation on genome function and phenotype. Prior to …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… The Gateway replaces what had previously been a paper-and-mail application process for the NIH Undiagnosed Diseases … of NIH's Division of Program Coordination, Planning, and Strategic Initiatives (DPCPSI), which provides financial … Anastasia Wise, Ph.D., program director, NHGRI Division of Genomic Medicine and co-coordinator for the NIH Common Fund's …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… collaboration with the UMDF, the NIH Metabolism, Infection and Immunity (MINI) Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … with mitochondrial disease receive immune therapies and some do not. The purpose of this study is to understand …