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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
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 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
… 1:15 – 2:15 p.m. Session Title: Therapies for Genetic Disorders Platform talk: Rescue of Proteus syndrome …