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Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… 750. Patients seen or scheduled: 700. Approximate annual patient visit rate: 130. Approximate distribution of patients … genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry and physiology. So … rare diseases Reuters July 1, 2014:  NIH Pumps $43M into Undiagnosed Diseases Network to Target Rare Disorders …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
Genomics is transforming how we study, diagnose and treat … where doctors can gather enough information from just one patient to try a new therapy. Such trials are aided by … grow very fast and die, they release some of their DNA into the bloodstream. We now have tests that are sensitive …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
Genomics is altering a genome with unparalleled efficiency … the latter, scientists will remove blood stem cells from a patient with sickle cell disease, edit the genome of those … cell mutation, and then re-insert the modified cells into the person's bone marrow. Since there are still no cures …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… by the NHGRI Genomic Medicine Working Group (GMWG). … Genomics and Medicine …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… example of scientific influencers making their way into pop culture. Recently, four NHGRI-funded genomic … particularly useful for those seeking to answer clinical genomics questions. In addition, this dataset is also made … …   Last week, NHGRI concluded the seven-part virtual “ Genomics and the Media Seminar Series .” The series featured …
Research at NHGRI
The NHGRI Office of Laboratory Animal Medicine promotes the humane care and use of animals in biomedical and behavioral research, teaching, and testing. ​
… of Laboratory Animal Medicine (OLAM) promotes the humane care and use of animals in biomedical and behavioral … and guidelines to NHGRI investigators on the proper care, use and humane treatment of research animals. OLAM is responsible for housing and care of research animals and for enhancing their well-being. …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… work together to develop and implement approaches to integrating extant genotype and phenotype data for the … and ethical considerations from these WGs are incorporated into variable selection, use, and interpretation in PRIMED. … … will work together to develop and implement approaches to integrating extant genotype and phenotype data for the …
The Genomics Landscape
In the April 2019 edition of The Genomics Landscape, NHGRI Director Eric Green previews the redesigned genome.gov website and its new features.
… and accomplishments from the institute and the field of genomics.   … NHGRI places a high value on the effective … a complete redesign. It is easy to marvel at how much genomics has changed in the last decade. Ten years ago, it … of genomics' role in human health and disease. Tune into  genome.gov in the coming weeks to see the redesigned …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… understanding the complications, we may gain insight into what causes them. This knowledge may help guide the … in our study, we are not able to "take over" the long-term care of a person with MMA To enroll in our study, a person … urine, and clinical history. Dr. Venditti will determine patient eligibility when definitive testing has not been …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… enrolled in a research study when first seeking clinical care, conversations about how genomic data may later be … to a wide range of patients.   As the lines between patient care and research continue to evolve and blur, these … are critical to maintaining the trust of the public in genomics research. Did you know that the top contributors of …