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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 …

The Genomics Landscape

Enhancing the diversity of the genomics workforce

In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.

… across the United States on top of the illness, death, and physical isolation that we have been experiencing … the COVID-19 pandemic, including those at the Centers for Disease Control and Prevention (CDC) and NIH . For NIH … on increasing the diversity of the next generation of genomic researchers. The NHGRI Diversity Action Plan (DAP) …

News Release

Gene therapy shows promise for treating Niemann-Pick disease type C1

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 … at NIH's National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of Child … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …

News Release

Genes associated with Erdheim-Chester disease also linked to cancer

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 … Juvianee I. Estrada-Veras, M.D., clinical investigator and staff clinician in NHGRI's Medical Biochemical Genetics …

News Release

NIH researchers use a new cell model of a rare disease to develop therapeutic compounds

A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.

… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences … of the disease: Type 1 causes enlargement of the liver and spleen, a low number of red blood cells, easy bruising …

News Release

Decades after rare disease diagnosis, family and physician hail genomic breakthrough

In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.

… Jeannine Mjoseth … For many years, Tonya and Cody Hanson's parents didn't know what caused their … 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 …

News Release

Protecting Participants, Empowering Researchers: Providing Access to Genomic Summary Results

Today, we are updating the way we manage data related to the NIH Genomic Data Sharing Policy.

… we are updating the way we manage data related to the NIH Genomic Data Sharing Policy to again allow unrestricted … tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. … … we decided that while we assess the state of the science and any potential risks to research participants, NIH …

15 Ways Genomics Influences Our World

Genome Editing

Genomics is altering a genome with unparalleled efficiency and precision.

… Genomics is altering a genome with unparalleled efficiency and precision. … Did you know that in the 15 years since we … 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 …

Research Funding

ML/AI Tools to Advance Genomic Translational Research (MAGen)

NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.

… need for increased research to develop tools to translate genomic research findings into clinical applications has been … medical devices in fields such as radiology, cardiology, and various other disciplines of medicine. Vast amounts of … of predicting how individuals with pathogenic genetic variants manifest disease. The ML/AI tools will leverage …

News Release

New centers to help understand biology, improve diagnoses, of rare mysterious diseases

NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.

… to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending available … models to examine how differences in the DNA code - called variants - can cause a disease. Scientists at the center, led … in UDN patients with information about the patients' genomic make-up and results from various medical tests. Taken …