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The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… on regulatory medicine and clinical trials in Mendelian disorders. The series will follow one of two formats: (1) a … of regulatory medicine and clinical trials in Mendelian disorders. The series will largely follow either one of two … of regulatory medicine and clinical trials in Mendelian disorders. … Event …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… on the world’s most vulnerable populations. … Genetic disorders, both monogenic and polygenic, contribute … decline from more common causes, genetic diseases and congenital birth defects disproportionately add to the public health burden. Genetic and congenital birth defects impose tremendous personal and …
Event
NHGRI will host a director's research seminar by Matt Hurles, Director of the Wellcome Trust Sanger Institute on October 30, 2023.
… Research Seminar, titled "Deciphering Developmental Disorders," by Matthew Hurles, FMedSci, FRS. Matthew Hurles … on deciphering the genetic causes of severe developmental disorders, and understanding how DNA mutates as it is passed …
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.
… of Outcomes in Purine and Pyrimidine Metabolism Disorders P127 Where Epigenetics, Cancer and Hypoxia meet … GM1 Gangliosidosis: New Biomarker for Neurodegenerative Disorders P204 Primary Care Electronic Medical Record … Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern P555 …
Event
On February 9-10, 2021, NHGRI will host it's 13th Genomic Medicine Meeting - Genomic Medicine XIII: Developing a Clinical Genomic Informatics Research Agenda.
… improve the detection, treatment and reporting of genetic disorders in clinical settings. The objectives of this …
Event
On October 25-29, 2022, 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.
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
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Session 6 Jamie L. Fraser, M.D., Ph.D. Director of Myelin Disorders Program and Fetal Genetics, Assistant Professor of …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
…  Contrasting Genetic Architectures of Blood Biomarkers, Disorders of the Gut and Disorders of the Brain Naomi Wray, Oxford University 2:00 …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… lecture Evolution of Germline Cancer Genomics from Rare Disorders to Precision Oncology Trials .  … The National … for the Dana Farber-Boston/Children's Cancer and Blood Disorders Center, will deliver the lecture Bringing Genomics …