Project Leader Activities

National Human Genome Research Institute Special Emphasis Panel (NHGRI)

ZHG1 HGR-P (M2) Functional Characterization – SEP, March 16 – March 17, 2021.

• Invited to give presentation on artificial intelligence for phenotype discovery and recognition in support of rare disease reach and diagnosis at the South Carolina Genetic Counseling Society, 2024 Education Meeting in Columbia, SC.
• The Association for Research in Vision and Ophthalmology (ARVO) invited seminar: Mini-symposium on non-coding variation in human eye disease: from discovery to functional exploration 2024.
• Elected to the ARVO Annual Meeting Planning Committee, Biochemistry/Molecular Biology section 2024-2027.
  International Society for Genetic Eye Disease and Retinoblastoma Biannual meeting 2023, invited talk titled: The clinical utility of Oxford Nanopore Technologies sequencing for inherited retinal disease genomics.
• Invited seminar “Advanced Genomic Analysis of Inherited Eye Disease: Observations and results from large cohort studies in the UK” at the Human Genetics and Genomic Medicine seminar series, University of Southampton, UK, 2023.
• Oxford Nanopore Technologies London calling annual meeting, invited talk, 2023
• Genomics England Research seminar “Interrogation of the 100,000 genomes project ophthalmic disease cohort reveals novel genes, new associations and previously undetectable mutations” 2023.
• Co-lead of the Genomics England Genotype-Phenotype association research community 2023-present.
• Co-chair of the Clinical Genome Resource (ClinGen) Retina Gene Curation Expert Panel (GCEP) 2021-present.

• Gave oral presentation at the Cold Spring Harbor Transposable Element Meeting.
• Serves as the guest editor for Genome Biology for the collection on transposable elements in genome evolution.

• Program coordinator for Clemson University and Medical University of South Carolina’s Biomedical Data Science and Informatics graduate program.
• Reviewer, NIH Special Emphasis Panel/Scientific Review Group 2024/10 ZRG1 HSS-N (90) (2024)
• Invited article: : From anecdotes to AI tools, how doctors make medical decisions is evolving with technology. The Conversation. https://theconversation.com/from-anecdotes-to-ai-tools-how-doctors-make-medical-decisions-is-evolving-with-technology-244271
• Invited lecture “Artificial Intelligence for Phenotype Discovery and Recognition in Support of Rare Disease Research and Diagnosis” at the South Carolina Genetic Counseling Society’s 2024 Annual Education Meeting
• Poster presentation, “Artificial Intelligence for Unsupervised Population Phenotyping to Uplift Disease Genotype to Phenotype Association Discovery” at the American Society for Human Genetics’ 2024 Annual Meeting
• Invited lecture, “Continuous monitoring artificial intelligence for early detection of acute inpatient conditions” at 2024 Neuro Impact Conference