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News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… This summer, Ms. Iriele focused on patients with Turner syndrome (TS), a chromosomal condition affecting development … student from Cameroon, collected images on Fragile X syndrome from physicians around the world and assessed the … and physical characteristics of Cornelia de Lange syndrome, a developmental disorder that is characterized by …
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 …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Merideth helped conduct the first Natural History Study in Hutchinson-Gilford Progeria Syndrome (HGPS), developing outcome parameters which …
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 …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… RO Cannon, WA Gahl, Introne WJ . Phenotype and course of Hutchinson-Gilford progeria syndrome . N Engl J Med 358:592-604, 2008. …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… for Disease Progression and Response to Treatment in Hutchinson-Gilford Progeria Syndrome Abhirami Thaivalappil Postbaccalaureate …
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 …