Karen S. Ho, PhD

The ASXL Rare Research Endowment (ARRE) Foundation is a family-led nonprofit founded in 2018 to support research and education for families affected by ASXL-related disorders, a group of complex neurodevelopmental conditions caused by mutations in the ASXL1, ASXL2, and ASXL3 genes. These disorders—Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome—have a serious impact on the lives of patients and their families. With around 500 diagnosed individuals worldwide, the ARRE Foundation is dedicated to advancing research and understanding of these rare disorders. As Chief Scientific Officer (CSO), I lead the scientific strategy and research agenda of ARRE Foundation. In collaboration with our Medical and Scientific Advisory Board, Board of Directors, and Executive Team, I shape the research roadmap, manage scientific projects, and strive to unite the ASXL academic, industry, and philanthropic network to drive progress toward safe and effective treatments and cures for the ASXL Related Disorders.

• Defined the mechanism of action of the company’s novel lead compound, a first-in-class catalytic nanomedicine • Advanced development of lead compound from early discovery (pre-IND) to registrational clinical trials (Phase 1, 2, 2/3) • Expanded the company’s drug portfolio and pipeline • Oversaw clinical biomarker strategy and bioinformatics/statistical analyses • Led scientific publication efforts for peer-reviewed publications, public presentations at scientific conferences, presentations to investors and other stakeholders, SEC filings, and press releases • Authored and/or contributed to internal and external-facing documents: white papers, clinical trial protocols, investigator’s brochures, and FDA communications • Evaluated external pharmaceutical assets for potential licensing, purchase, or merger deals, or as potential competitive threats • Mentored, advised, and provided career development opportunities for internal scientific staff • Oversaw initial execution of an NIH-funded, $45M, 4-year Expanded Access Program for individuals with ALS, working cross-functionally with clinical operations, med affairs, the PR team, and external academic institutions and commercial healthcare organizations • Responsible for bringing in over $63.1 M worth of non-dilutive grants or other support from the US government, business partners, and foundations (NINDS/NIH, Michael J Fox Foundation, National Multiple Sclerosis Society, FightMND, National Academy of Medicine, Multiple Systems Atrophy Coalition, Healey Foundation, US Department of Defense CDMRP). • Member of the executive team who executed a SPAC merger totaling $31.9 M to advance the company through IPO

I lead patient-focused efforts to accelerate translational medicine development for pediatric epilepsy and SCN2A-related disorders.

Supporting individuals with a 4th chromosome condition and their families by providing information, education, and support; uniting families, researchers, and professionals; and promoting awareness, understanding and research of the 4p- syndrome, with Wolf-Hirschhorn syndrome as the main condition.

http://rareundiagnosed.org/

Hopeful Science is a nonprofit institution that excels at catalyzing scientific interactions among rare disease support groups, scientists/clinicians, and pharma to accelerate translational medicine for rare disease.

Thesis work described the molecular mechanism of the gene costal2 in the hedgehog signaling pathway, resulting in peer-reviewed publications in both Cell and Development.

Marshall Scholar