Search Results
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… as a program director in 2019. He manages a portfolio of grants focused upon genomic data sciences, and is … genomics from a centralized data repository model to cloud-based collaborative science. Apart from genomic data … and protein evidence connects TREML4 to coronary artery calcification. Am J Hum Genet . 2014 Jul 3;95(1):66-76 [ …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira discusses the challenges of … Ferreira: We also characterized patients with generalized arterial calcification of infancy, starting with a natural history …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Institute (NHGRI) are working with patients and families to better understand of how genes can cause or influence … Molecular Investigations into Ciliopathies Coronary Artery Calcification ClinSeq: A Large-Scale Medical Sequencing … and Genetic Studies on Holoprosencephaly Immunologic Deficiency Syndrome Genetic Analysis of Immune Disorders …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us … Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … … - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… The CLINSEQ® Study seeks to learn about the role that your genes play in your health. … by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to what we know about your … and protein evidence connects TREML4 to coronary artery calcification. Am J Hum Genet , 95(1):66-76. 2014. [ PubMed …
Fact Sheet
Diversity among genomics research participants is essential for improving the health of everyone.
… similar in most ways, our biological processes make each of us unique. Many aspects of those processes are encoded in … and T. The dissimilarities among human genomes, referred to as variants, come from differences in our DNA sequences.  … populations.  Genomes from distinct populations differ due to multiple factors, including who people decide to …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… disorders and associated intracellular processes in order to gain insight into the changes in molecular function that … kinase, which in turn leads to sialic acid deficiency. Without adequate supplies of sialic acid, … HIBM. These mice die of unexpected glomerular disease due to hyposialylation of kidney glycoproteins, leading to …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… and Biochemical Genetics. In 2010, Dr. McGuire moved to the National Institutes of Health (NIH) to join the … Bequette, B.J., Diaz, G.A. Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency. Dis Model Mech , 7:205-213 . 2014. [ PubMed ] Tan …
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing
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… Techniques to modify DNA in the genome have existed for several decades, but the conversation about the science and ethics of genome editing has grown louder due to faster, cheaper, and more efficient technologies. … …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… genes, SCID makes those affected highly susceptible to life-threatening infections by viruses, bacteria and … on the X chromosome. Another form of SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA), normally … A family history of immune deficiency or infant deaths due to infections … X-linked severe combined immunodeficiency …