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NHGRI at 2024 ACMG Annual Clinical Genetics Meeting

Event Details

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.  The conference will provide a firsthand look at what is shaping the future of genetics and genomics in medicine and will offer a variety of engaging and interactive educational formats and types of sessions — from Scientific Sessions and Workshops to TED-Style Talks, Case-based Sessions, Platform Presentations and Short Courses.

Visit with NHGRI staff at Booth #827 in the convention center to learn more about our research, programs, career and training opportunities.

All times are in Eastern Time (ET).


Metro Toronto Convention Centre

Plenary Talks


March 13, 2024, 10:00–12:00 p.m.
Diana Bianchi, M.D., NHGRI, Panelist2024 ACMG Foundation Awards and Presidential Plenary Session: Inquiry and Innovation – How Far Have We Come and How Far Can We Go?
March 16, 2024, 10:15–12:15 p.m.
Teresa Luperchio, Ph.D., Co-moderatorR. Rodney Howell Symposium: Looking Beyond the Lamppost: Genome-first Approaches Using EHR-linked Biobanks

Platform Presentations


March 14, 2024, 4:15 – 5:45 p.m
MTCC-718Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research ProgramClinical Genetics and Therapeutics Session A
March 14, 2024, 4:15 – 5:45 p.m
MTCC-701Analysis of Patient-Reported Outcomes and a Functional Assessment from 3-year Nitisinone treatment Trial in Patients with AlkaptonuriaBiochemical/Metabolic and Therapeutics
March 14, 2024, 4:15 – 5:45 p.m
MTCC-701Investigating the Impact of the 2022 ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency SyndromesBiochemical/Metabolic and Therapeutics

Poster Presentations


P006Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort
P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in Purine and Pyrimidine Metabolism Disorders
P127 Where Epigenetics, Cancer and Hypoxia meet
P134 Neuronal Pathways by Differential Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 Gangliosidosis: New Biomarker for Neurodegenerative Disorders
P204 Primary Care Electronic Medical Record Features Predicting Genetics Referrals
P224 Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism
P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: Findings from a Twin Case
P383 Leptomeningeal Cavernomatosis: An unusual phenotype for familial cerebral cavernous for familial cerebral cavernous malformations
P474 Secondary Findings Analysis in the Personalized Environment and Genes Study: Reduced Return in Disorders with Autosomal Recessive Inheritance Pattern
P555 Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study
P712A Novel Framework for Use of the PP1/BS4 Co-segregation and PP4 Phenotype Specificity Criteria for Sequence Variant Pathogenicity Classification
P824 GREGoR: increasing rare disease diagnosis using emerging technologies and data sharing
P836 A Framework and Implementation of the Association of Professors of Human and Medical Genetics Updated Core Competencies for Medical School
P848 Novel Structural Variant in PDGFB-associated with Ectopic Intracerebral Calcifications

Last updated: February 29, 2024