Search Results
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.
… Syndrome (FCAS) Muckle-Wells Syndrome (MWS) Neonatal Onset Multisystem Inflammatory Disease (NOMID) Undifferentiated …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ …  … The Metabolism, Infection and Immunity (MINI) Section’s mission is to understand how infection causes …
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 … blood vessels in the brain. … ADPKD is usually an adult-onset condition. This means that many people with ADPKD live … child of either gender. In this form, one out of a person's two copies of the gene must be altered in order for the …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… is principal investigator at Baylor College of Medicine's UDN DNA Sequencing Core. The Baylor College of Medicine … variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … especially how their function or malfunction may affect a disease condition. Investigation of gene function is a …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… a PYRIN domain-containing activator of IL-1b, that cause neonatal-onset multisystem inflammatory disease (NOMID), an autoinflammatory …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … and are considering exploring other disorders, including inflammatory/autoimmune and bone/skeletal diseases, and … each is also different in many ways - from the age of onset to the underlying biological changes. For each disease, …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… said James M. Anderson, M.D., Ph.D., director of NIH's Division of Program Coordination, Planning, and Strategic … provide patients and their families access to the nation's leading diagnostic teams and sophisticated diagnostic … York City Harvard Teaching Hospitals (Brigham and Women's Hospital, Boston Children's Hospital, Massachusetts General …
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 … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in understanding how disruptions in signaling …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … NPC1 symptoms. … The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the …