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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 … affects one in every 50,000 to 100,000 people, but is more common in people of Ashkenazi Jewish ancestry. There are …
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 … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … 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.
… Center initially in 2008. The UDN was funded by the NIH Common Fund from 2013-2022. … Longstanding medical … diagnosis are considered undiagnosed and are of interest to this clinical research program. Thirty to thirty-five … to reach a diagnosis: from one week to 10+ years. Types of genomic sequencing performed: Family genome sequencing, …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
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… Dr. Volpi is the deputy director of the the Division of Genomic Medicine at the National Human Genome Research … a portfolio of extramural grants and contracts related to the Genotype-Tissue Expression (GTEx) Project as well as … National Human Genome Research Institute. … Simona Volpi, common diseases, Genotype-Tissue Expression Project (GTEx), …
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… time have used a combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of … orhard-to-grow microorganisms implicated in health and disease, according to a study published online the week of … Microbiome Project (HMP). The HMP is supported by the NIH Common Fund and coordinated by the National Human Genome …
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 … child with mitochondrial disease receives vary from person to person. Some children with mitochondrial disease receive …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… may not yet have jet packs or flying cars, but the ability to edit genomes precisely is now real. These new methods … be to "edit" that genome  - perhaps to cure a genetic disease or to alter the a trait in a plant or animal. … introduce mutations at the wrong sites rather than the genomic location being targeted. Many scientists are working …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
… that offer a spectrum of opportunities and experiences to individuals at every stage of their careers. Heather is … Ms. Colley was also a program director in the Division of Genomic Medicine, National Human Genome Research Institute … , PAGE Consortium , IGNITE Consortium , and the NIH Common Fund Undiagnosed Diseases Network . Her research …
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to DemocratizingEd@mail.nih.gov . These educational materials … are for informational purposes only. They are meant to promote your general understanding of gene therapy for …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… in 2001. Dr. Sood’s long-term research interest has been to understand the molecular basis of human genetic disorders. … Genome project, she became interested in the functional genomic analyses of genes using the zebrafish model. With … Institute. … Raman Sood, zebrafish, rare diseases, common diseases, genetic disease, animal models of disease … …