News & Comment

Dr. Kamilla Kamaruddin is a general practitioner in Transgender Health Care and Clinical Lead at the East of England Gender Service, Cambridge, UK. She is also a board member for sexual health and wellbeing organisation Spectra-London, trustee at LGBTQ+ cancer charity Live Through This, and health advisor for trans community organisation TransActual UK. In this Q&A, we ask Dr. Kamaruddin a series of questions on the difficulties transgender people face in accessing quality healthcare, with a particular focus on the UK.

Today is Global Recycling Day. All medical practices and disciplines face sustainability issues and there is a huge focus in the UK on minimising the environmental effects of medicine. Here we speak to Dr Daniel Lake about ‘Project Greener Anaesthesia’, which aims to do just that for Anaesthetics.

Professor Bobby Gaspar is a distinguished physician-scientist who is a thought leader in translating basic research from bench-to-bedside and strategic work that facilitated bringing life-saving therapies to patients with rare diseases. He has over 30 years of experience in pediatric medicine working in the NHS and the biotechnology sector, and is the founding member of Orchard Therapeutics, where he serves as Chief Executive Officer. In this Q&A, Professor Gaspar provides insight into the regulatory approval and policy considerations for bringing novel therapies for rare diseases from discovery through to clinical application.

Annemieke Aartsma-Rus is a Professor of Translational Genetics at the Leiden University Medical Center. She was one of the pioneers of antisense oligonucleotide (ASO)-mediated exon skipping therapy for Duchenne muscular dystrophy (DMD). Her work focuses on the personalized approach to delivering exon skipping therapy for patients with rare genetic diseases within the setting of the Dutch Center for RNA Therapeutics, which she co-founded in 2020 and is on the Board of Directors. Currently, four exon skipping drugs have been approved by the US Food and Drug Administration for DMD, three of which are based on the IP generated by Aartsma-Rus’ institute. She is also involved in patient education in collaboration with the Duchenne Patient Academy and the European Organisation for Rare Diseases (Eurordis). In this Q&A, we ask Prof. Aartsma-Rus a series of questions on the latest developments in therapies for rare diseases and how best to overcome some of the existing challenges with this endeavour.

Megan O’Boyle is the parent of a 22-year-old daughter with a rare neurodevelopmental disease. She is currently the Patient Engagement Lead of the RARE-X Data Collection Program at Global Genes, a collaborative platform for global data sharing and analysis created to accelerate treatments for rare diseases. In this Q&A, we ask Megan a series of questions on patient engagement and involvement in rare disease research.

Dr. Stephen Kingsmore is the President and CEO of Rady Children’s Institute for Genomic Medicine. His career as a physician-scientist has covered the implementation of genomic medicine approaches for rare genetic disorders. This has furthered the field of genomic medicine, in which genomic information about an individual is used as part of their clinical care to facilitate diagnosis or improve treatment. In this Q&A, we ask Dr. Kingsmore a series of questions about the challenges in diagnosing rare diseases and how diagnosis could be improved in the future.

Dr. Daniel Demant is an Epidemiologist and Senior Lecturer in Public Health at the University of Technology Sydney and a Visiting Fellow in the School of Public Health and Social Work at the Queensland University of Technology, Brisbane, Australia. His research focuses on health in disadvantaged populations and he has a particular interest in sexual health and substance use in LGBTQ+ populations. In this Q&A, we ask Dr. Demant a series of questions on disparities in substance use in LGBTQ+ people, the potential reasons underlying such disparities and harms associated with them, and the direction of research in this area.

Dr. Jessica N. Fish is an Assistant Professor in the Department of Family Science, University of Maryland Prevention Research Center, University of Maryland, USA. Her research seeks to promote the positive development and health of LGBTQ+ people and their families. In this Q&A, Dr. Fish provides insight into the health disparities that affect LGBTQ+ populations, with a particular focus on mental health and the development of LGBTQ+ youth, and important research and policy considerations in this area.