2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-ACMG Annual Meeting 2023 Abstract Supplement

ACMG Annual Meeting 2023 Abstract Supplement
Pdf Summary
The document compiles abstracts from studies, meetings, and conferences in genetics and genomics, covering significant clinical and research advancements. Key highlights include:<br /><br />1. **Angelman Syndrome**: A major longitudinal study with 458 participants identifies genotype-phenotype correlations and emphasizes personalized care based on genetic subtypes.<br />   <br />2. **Duchenne Muscular Dystrophy (DMD)**: Gene therapy (delandistrogene moxeparvovec) shows improved functional outcomes, suggesting it could alter the disease trajectory for DMD.<br /><br />3. **Fragile X Syndrome (FXS)**: Data from over 1400 individuals reveal common medical complications, aiding in better management strategies for FXS.<br /><br />4. **Whole Genome Sequencing in Pakistan**: High diagnostic yield of genetic disorders in a consanguineous population underscores the utility of genome sequencing in underrepresented groups.<br /><br />5. **QRICH1-Related Disorder**: New case studies expand the phenotype spectrum, highlighting the importance of continuous patient reevaluation for accurate diagnosis.<br /><br />6. **GM1 Gangliosidosis**: Clinical outcomes combined with advanced imaging techniques suggest potential biomarkers for future GM1 gangliosidosis treatments.<br /><br />7. **KIF26A in Hydrocephalus and Megacolon**: Identifying variants in KIF26A helps understand genetic bases of congenital conditions like severe megacolon and brain malformations.<br /><br />8. **Undiagnosed Diseases Network (UDN)**: Mosaic RHOA variant identified in multi-system anomalies, advocating for DNA testing from various tissues for accurate genetic diagnoses.<br /><br />9. **Drug Discovery for Kabuki Syndrome (KS)**: High throughput screening (HTS) identifies small molecules that increase KMT2D or KDM6A expression, showing potential therapy pathways for KS.<br /><br />10. **CRISPR-Cas9 and NGS for Homologous Genes**: Using CRISPR-Cas9 with next-generation sequencing improves accuracy in sequencing homologous genes like CFTR, GBA, and SMN1/2, crucial for diagnosing disorders involving these genes.<br /><br />11. **Neonatal Intensive Care Genomics**: Rapid whole genome sequencing improves diagnostics in critical neonatal care, with significant success in diagnosing 49% of ill infants.<br /><br />12. **Probabilistic Models for Variant Interpretation**: Bayesian models enhance interpretation of variants of uncertain significance, improving diagnostic accuracy.<br /><br />13. **22q11.2 Deletion Syndrome**: Studies reveal underrepresentation of African Americans and nested deletions, guiding better genetic evaluations and clinical management.<br /><br />14. **Heterozygous NFIA Variants**: Family studies show variable phenotypes, highlighting the role of NFIA in neurodevelopmental disorders.<br /><br />15. **Prenatal Sequencing for Fetal Conditions**: Emphasizes the importance of reclassification efforts and functional studies in understanding pathogenic variants affecting fetal health.<br /><br />The document demonstrates the broad impact of genetic research on diagnosing and treating complex conditions, leveraging advanced techniques like whole genome sequencing, CRISPR-Cas9, and computational models.
Keywords
genetics
genomics
Angelman Syndrome
Duchenne Muscular Dystrophy
Fragile X Syndrome
Whole Genome Sequencing
QRICH1-Related Disorder
GM1 Gangliosidosis
KIF26A
Undiagnosed Diseases Network