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… • New Lab at NHGRI • Focus on Prenatal Treatment of Down syndrome • Incidental Findings Following Prenatal DNA … 2016; 374:1853-63 Opportunities for Antenatal Treatment of Down Syndrome From: Bianchi DW, Nature Medicine2012; 18: …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… tenure, he reorganized the IRP to consolidate 10 branches down to 7 and established the Metabolic Medicine Branch . He … Director Paul Liu, M.D., Ph.D. , who recently stepped down from that role after 12 years of leadership. Six months … E1 enzyme, X-linked, autoinflammatory and somatic syndrome). In an episode of Symptomatic: A Medical Mystery …
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… their cells (the XXY variation is called the Klinefelter syndrome ), and many men lose the Y chromosome from their … traced using the Y chromosome because it is only passed down from the father. Many health conditions are thought to … while the X chromosome has about 900 genes. Klinefelter syndrome X Chromosome Y Chromosome …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… for the presence of extra chromosomes, such as trisomy 21 (Down syndrome) in the fetus in early pregnancy. These tests detect … appointment, Erica came to the NIH Clinical Center and lay down in a narrow tube, completely still, as the large …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… As the summer heat bears down on the country and the battle against the COVID-19 … on coronavirus disease 2019 (COVID-19) in individuals with Down Syndrome for the INCLUDE Project Notice of requirement for …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… an ancient disease. It is the most common periodic fever syndrome, and symptoms of FMF include recurrent fevers, … to fight another may seem counterintuitive. But it comes down to what is the least bad option. The average mortality …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… about investing significant funds into a single top-down managed research effort and others thought the Project … and Rick Kittles about how new findings in genetics tear down old ideas about race, grapple with the unfinished … vaccine candidate begins Study ties COVID-19-related syndrome in kids to altered immune system NIH-supported study …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular … Albinism Alkaptonuria Study of Alkaptonuria Alstrom Syndrome Clinical and Molecular Investigations into … Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical and Molecular Investigations into …
News Release
Researchers are trying to understand a process whose rules are constantly being written and rewritten by cancer's rogue cells: who will more likely relapse.
… and its symptoms. These words necessarily lead patients down completely different paths. …