Medical Advisory Board

  • Assistant Professor Neurology

    University of Minnesota

    The Pacak laboratory investigates mechanisms that lead to mitochondrial dysfunction in a variety of disease settings using differentiated patient-derived induced pluripotent stem cells (iPSCs), mouse models, and adeno-associated virus (AAV) mediated gene delivery systems.

    The Pacak laboratory is focused on identifying common mechanisms of disease related to mitochondrial function that can be augmented through gene therapies. The lab uses differentiated iPSCs and a variety of in vivo models to pursue these investigations.

    https://med.umn.edu/bio/christina-pacak

  • Ana is currently a Consultant in Clinical Genetics at Guy’s and St Thomas’ NHS Foundation Trust in London. She brings over a decade of expertise in diagnosing and managing rare genetic and developmental conditions.

  • Professor and Vice Chair of Research, Department of Neurology

    University of Minnesota

    Peter B. Kang, MD, FAAN, FAAP is a pediatric neuromuscular neurologist and physician-scientist whose laboratory studies the genetics of muscular dystrophy and mechanisms of rare muscle diseases, with the goal of discovering new therapeutic targets for these diseases. He also studies DNA repair disorders including Cockayne syndrome and xeroderma pigmentosum. He has published extensively on these subjects, has co-edited a textbook of pediatric electromyography, and has been awarded multiple grants from the NIH and the Muscular Dystrophy Association to support his investigations. With support from the CDC, he led the successful initiation of the first site in Florida for the MD STARnet consortium and continues to work on this project. He is an associate editor of Muscle & Nerve and serves on the editorial board of Neurology. National presentations include lectures on pediatric neuromuscular topics at the annual meetings of the American Academy of Neurology, American Academy of Pediatrics, American Association of Neuromuscular and Electrodiagnostic Medicine, the Child Neurology Society, and the Muscular Dystrophy Association. He is President-Elect of the Child Neurology Society.

    Previously, Dr. Kang was Professor of Pediatrics, Chief of the Division of Pediatric Neurology, and Director of the Child Neurology Residency Program at the University of Florida College of Medicine. Earlier in his career, he was Director of the Electromyography Laboratory at Boston Children's Hospital and Associate Professor of Neurology at Harvard Medical School.

    In clinic, Dr. Kang sees children with confirmed or suspected neuromuscular disorders such as muscular dystrophy, congenital myopathy, neuropathies, brachial plexus injuries, spinal muscular atrophy, and myasthenia gravis, as well as children with DNA repair disorders such as Cockayne syndrome and xeroderma pigmentosum. He will see adult patients with these conditions upon request.

Board of Trustees

  • I am the mother of Amber, who was diagnosed with MORC2-related-disorder in 2021. I am also a senior level executive with over 20 years of experience working in the delivery of children services, specifically for those affected by disability within the Global South. Within my current role of CEO, we are leading the technical team for disability services in Rwanda in partnership with UNICEF and serve as the Inclusion arm within the multi million pound Education Outcome Fund in Ghana, funded by the World Bank and UBS Optimus.

    I have been working for marginalised children my entire career and I recognise the huge disparities that exist within the rare disease context. I hope that my experiences both as a CEO and as the mother of Amber, will enable me to better support everyone who has been affected by MORC2-related-disorder.

  • David brings a wealth of experience and knowledge in investment banking, finance and life sciences. He holds degrees in biochemistry and biotechnology from the University of Birmingham. David worked in the pharmaceutical industry for Schwarz Pharma and Schering AG in marketing and strategic development, where he was part of the global development group for oncology. This industry experience lead to his recruitment by Hoare-Govett investment bank as its European healthcare analyst. From here he moved to UBS AG investment bank where he was a Managing Director and a leading equity research analyst in the healthcare sector for over 10 years. He managed some of the largest healthcare equity research teams in investment banking. As well as building and heading up highly ranked sector teams both globally and across Europe, he was also a high-ranking individual financial analyst. He has been invited to present on many aspects of the healthcare industry to government, scientific and healthcare industry groups. At UBS, David was the lead analyst on several corporate finance projects, including IPOs and M&A. He has been a non-executive Director at Bioenvision and Peptinnovate in the biotechnology space and Burgopak (specialist design and packaging) and has consulted for many others regarding scientific, corporate finance and business development strategies. David was a founding partner of Napa Capital, a corporate finance advisory boutique, advising several clients regarding financing projects.

  • Experienced Marketing and Technology leader. Passionate about connecting people and data to continually improve. Extensive M&A, brand development, integration and change management experience. Persuasive communicator who leads by example. Currently leading global audience data and analytics initiative for a large professional services firm.