The unusual suspects: Rare disease in everyday medicine

Dr Gareth Baynam is a clinical geneticist working in Western Australia with a long-standing commitment to improved Indigenous health care. Dr Baynam works to develop and deliver genetic health care in partnership with Aboriginal health leaders and the community.  Among current activities, Dr Baynam is a practising Clinical Geneticist, a Clinical Genomics Policy Advisor at WA Health, Director of the Undiagnosed Diseases Program, a co-director of genetic and rare diseases research at the Telethon Kids Institute, and a member of the International Scientific Advisory Board of the new pan-European Union genomic and multi-omic initiative for rare diseases (Solve-RD).

Georgina Morton spent almost 20 years as a Television Producer, specialising in producing high-profile ‘celebrity’ interviews for talk shows and awards shows such as ‘Parkinson’ and the BAFTA Awards. However, her life and career changed dramatically in 2013 when her daughter Ava was diagnosed with a rare lysosomal storage disorder, Metachromatic Leukodystrophy. In 2014 Ava was accepted onto a clinical trial of Gene Therapy for MLD and the experience led Georgina to form a charity, ArchAngel MLD Trust. ArchAngel supports medical teams working on treatments for MLD, awards grants to UK MLD families and is spearheading a campaign to have all UK babies screened for MLD (and other rare diseases) at birth.

Professor Bobby Gaspar is a world-renowned scientist and physician and accomplished strategic and organizational leader with more than 25 years of experience in medicine and biotechnology. As one of Orchard Therapeutics’ principal scientific founders, Bobby serves as Chief Executive Officer of the company and also sits on Orchard’s Board of Directors. Bobby has been a pioneer in gene therapy and the evolution of hematopoietic stem cell (HSC) technology – including some of the first studies in patients with severe combined immunodeficiency (SCID) – bringing it from some of the first studies in patients to potential regulatory approvals. His unparalleled expertise and deep relationships with key physicians and treatment centers around the world are integral to Orchard’s efforts to identify patients with metachromatic leukodystrophy (MLD) and other diseases through targeted disease education, early diagnosis and comprehensive newborn screening.

Bobby is also an Honorary Professor of paediatrics and immunology at the UCL Great Ormond Street Institute of Child Health and has led multiple clinical trials that have shown that gene therapy can successfully correct the genetic defect in immune deficiencies. He studied medicine and surgery at Kings College in London before completing his Ph.D. at the UCL Institute of Child Health.

David has been speaking on living with an ultra-rare disease for several years. He has an ultra-rare disease called Occipital Horn Syndrome. He has been working for the rare disease magazine – Rare Revolution Magazine – for the last 2 and a half years. He is also a trustee for Mitrofanoff Support.