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News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… of this application system sets the stage for the network to advance its core mission: to diagnose patients who suffer from conditions that even … been described or are unrecognized forms of more common diseases. … Anastasia Wise, Ph.D., program director, NHGRI Division of Genomic Medicine and co-coordinator for the NIH Common Fund's …
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). … disease often affects the brain, which may cause children to experience movement disorders, seizures and ongoing injury to their nerve cells. The COVID-19 pandemic poses a …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… that will fund studies of the function of genes thought to play roles in particular patients' conditions. Christine … variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … be studied in zebrafish. The UDN is funded through the NIH Common Fund, which supports cross-cutting programs that are …
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.
… This study was initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has expanded to include several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Hanson's parents didn't know what caused their children to have weak facial muscles, cleft palates and curvature of … spine. Nor did they know what produced the phlegm that had to be suctioned from each child's lungs every 15 minutes for … Thirty-five years later, researchers have identified the genomic mutations responsible for CFZS (<a …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National … Center initially in 2008. The UDN was funded by the NIH Common Fund from 2013-2022. … diagnosis are considered undiagnosed and are of interest to this clinical research program. Thirty to thirty-five …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were … Program . "Our work on ECD builds on the institute's goals to advance medical knowledge about rare diseases and to …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… Institutes of Health has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … that they have succeeded in coaxing cultured cells to exhibit the signature traits of the disease. Using this …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the … Accomplishments in Genomic Medicine (OLD) … The NHGRI Genomic Medicine Working Group has compiled a list of …
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.
… Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … child with mitochondrial disease receives vary from person to person. Some children with mitochondrial disease receive …