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
| Moderator/Presenter | Title |
|---|---|
| March 13, 2024, 10:00–12:00 p.m. | |
| Diana Bianchi, M.D., NHGRI, Panelist | 2024 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-moderator | R. Rodney Howell Symposium: Looking Beyond the Lamppost: Genome-first Approaches Using EHR-linked Biobanks |
Platform Presentations
| Location | Title | Category |
|---|---|---|
| March 14, 2024, 4:15 – 5:45 p.m | ||
| MTCC-718 | Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program | Clinical Genetics and Therapeutics Session A |
| March 14, 2024, 4:15 – 5:45 p.m | ||
| MTCC-701 | Analysis of Patient-Reported Outcomes and a Functional Assessment from 3-year Nitisinone treatment Trial in Patients with Alkaptonuria | Biochemical/Metabolic and Therapeutics |
| March 14, 2024, 4:15 – 5:45 p.m | ||
| MTCC-701 | Investigating the Impact of the 2022 ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes | Biochemical/Metabolic and Therapeutics |
Poster Presentations
| No. | Title |
|---|---|
| P006 | Evaluation 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 |
| P712 | A 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