Project Leader Activities

National Human Genome Research Institute Special Emphasis Panel (NHGRI)

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

• 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.

Invited Seminars:

• Using animal models to unravel gene function. Invited Seminar, Bob Jones University. May 2021.
• Cathepsin proteases drive heart valve defects in MLII zebrafish. Invited Platform Presentation, National MPS Society Meeting. June 20, 2021
• Defects in N-cadherin Processing Drive Cartilage Pathology in PMM2-CDG. Invited Platform Presentation, Euroglycanet International Meeting on CDG Disorders. June 22-24, 2021.
• Modeling CDG: Novel zebrafish mutants provide pathogenic insight to PMM2-CDG and beyond. Greenwood Genetic Center Case review. June 23 2021.
• Interviewed for an episode on the SC Department of Commerce Scribble show. SC Innovators. Aired September 2021
• Model Systems: A Path to Solving the VUS Conundrum. Greenwood Genetic Center Conclave Symposium. November 2021.
• (Accepted) Invitation to speak at the Gordon Conference on Protein Processing in July 2022.
• (Accepted) Invitation to speak at the National MPS Society Meeting in June 2022.
• (Accepted) Invitation to speak at the Annual Rare Disease Symposium at the Sanford-Burnham-Prebys Institute for February 25-27, 2022.

Grant Review:

• Cure San Fillipo: reviewed in 2021
• Member of 2 disease network or professional consortiums:
  • Mucolipidosis Collaborative Research Network
  • Frontiers in CDG Consortium (an NIH funded consortium) – newly joined 2021

Invited Seminars:

• Improving Phenotype Prediction by Learning Patterns of Sharing across Responses. School of Mathematical and Statistical Sciences, Clemson University. March 22, 2021, Clemson, SC, USA.
• Improving Phenotype Prediction by Learning Patterns of Sharing across Responses. Rising Star symposium, Clemson University. September 9, 2021, Clemson, SC, USA.
• Improving Phenotype Prediction by Learning Patterns of Sharing across Responses. Biomedical Data Science and Informatics (BDSI) program seminar, Clemson University. December 1, 2021, Clemson, SC, USA.