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News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… of development and overgrowth such as Pallister-Hall syndrome, McKusick-Kaufman syndrome and Proteus syndrome. He initiated ClinSeq® , a large-scale medical …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… DATA Scholars Program, DSI-Africa, ClinGen, Long QT Syndrome … In the March 2020 edition of The Genomics …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… DNA-editing method shows promise to treat mouse model of progeria In Broad Institute video, Dr. Collins describes new study using gene base editing to treat progeria What a year it was for science advances! Researchers … effects on the brain Trying to make sense of long COVID syndrome On NPR’s All Things Considered, Dr. Collins provides …
The Genomics Landscape
In the December 3, 2020 edition of The Genomics Landscape, Dr. Eric Green spotlights on ELSIhub.
… between this SNP and the risk of one disease, fragile X syndrome. I could only dream that 20+ years later, we would … NIH research help lead to first FDA-approved treatment for progeria Notable accomplishments in genomic medicine COVID-19 …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib …
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.
… vaccine candidate begins Study ties COVID-19-related syndrome in kids to altered immune system NIH-supported study …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… researchers identify an altered gene that causes Pendred Syndrome, a inherited form of deafness. 1998 March 1998: Vice … chromosome 21, already known to be involved with Down syndrome, Alzheimer's disease, Usher syndrome and Lou … the gene that causes the premature aging disorder progeria . The findings were released online in the journal …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… for 17 genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes … as having limited or disputed evidence for causing the syndrome, and confirmed only three of the genes to be … awards to support training in research related to Down Syndrome as part of the INCLUDE Project Mentored career …