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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… not accept all applicants due to the complex nature of the body and the diseases being investigated. … review all applications. … Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic …
Talking Glossary
A gamete is a reproductive cell of an animal or plant.
… Gamete … A gamete is a reproductive cell of an animal or plant. … A gamete is a reproductive cell of an animal or plant. In animals, female gametes are called ova or …
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 growth of numerous cysts in both kidneys. The progressive expansion of PKD cysts slowly replaces much of the normal mass of the …
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). … Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have … problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often …
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.
… Jeannine Mjoseth … For the first time, National Institutes of Health (NIH) researchers have demonstrated in mice that … 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 …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… Raymond MacDougall … The National Institutes of Health (NIH) announced today that Baylor College of … variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … through which researchers will develop a pipeline of models for disease-causing mutations in a broad range of …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… Jeannine Mjoseth … National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … identified anti-inflammatory treatments that ease some of the patients' symptoms: fever, skin rashes, diarrhea, …
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. … A major focus of the branch's research lies in understanding how …
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.
… Sheena Faherty, Ph.D. … The National Institutes of Health will fund a set of genome sequencing and analysis … part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … among people influence disease risk and to develop models for future studies of common disease. CMG scientists …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Diseases Network (UDN), a clinical research initiative of the National Institutes of Health (NIH), has opened an online patient application portal called the UDN Gateway. Introduction of this application system sets the stage for the network to …