Oxford-Harrington Rare Disease Centre

A powerful reminder from Julia Vitarello of the daily lives of families affected by rare diseases. Raiden Pham is 4 years old and is diagnosed with a rare neurodegenerative condition, UBA5 disorder. As with thousands of children with rare genetic conditions, hope for Raiden currently lies in the hands of his parents Raiden Science Foundation. More here https://lnkd.in/gdncyKTk

Delighted to see Mila's Legacy receiving this award, recognising the thoughtful and impactful work of Sandra Kanthal and Natasha Loder exploring the transformative potential of individualised therapies for children with rare diseases. Featuring OHC Director Matthew Wood, listen here on BBC Radio 4 “Mila’s Legacy”: https://lnkd.in/guVQc_zH

Excellent news for AlveoGene, making progress on the regulatory path to a gene therapy for a rare, lethal neonatal deficiency. Read more: https://lnkd.in/dZnyrT5Z

Great news for those who couldn't attend the Oxford-Harrington Rare Disease Symposium on September 24-26th! Video recordings of 16 symposium talks from experts in rare disease therapeutics development are now available online. Find the video highlights linked in the story below: https://lnkd.in/d2rgNBMX

Thank you Liz Brennan for acknowledging both the successes and remaining challenges in #CysticFibrosis research and therapeutics development. CF reminds us that with concerted collaborative efforts we can make a transformative difference for people affected by #raredisease Bowen Li is one of our new Rare Disease Scholars and is working on a nucleic acid therapy to treat CF.

Congratulations to the ten recipients of the 2024 Oxford-Harrington Rare Disease Scholars Award! The scholar awards will support breakthrough treatments for rare and ultra-rare diseases across neurologic, oncologic, and metabolic disease areas, using small molecule, nucleic acid, viral, and cellular therapies. The recipients represent institutions across the UK, US, and Canada, and were selected from a large number of outstanding proposals. Warm congratulations go out to Jacquelyn Bower, Louis Chesler, Charles Gersbach, Xianxin Hua, Bowen Li, Carlo Rinaldi, Tim Yu, Haiyan Zhou, Michael Pacold, and Michele Jacob. #rarediseases

Ten scientists have been selected for OHC’s Inaugural 2024 Rare Disease Scholar Award to advance academic discoveries into clinical practice for rare diseases. The 2024 OHC Rare Disease Scholar Award recipients, their organisations and fields of research are:  Jacquelyn Bower, PhD – University of North Carolina at Chapel Hill Novel viral gene therapy to treat lethal rare eye tumours. Louis Chesler, MD, PhD – The Institute of Cancer Research, London, UK  Regulatable cell therapies to treat brain cancers. Charles Gersbach, PhD – Duke University, Durham, NC, USA  Reprogramming immune cells for treatment of Hodgkin’s lymphoma. Xianxin Hua, MD, PhD – University of Pennsylvania, Philadelphia, PA, USA  A new cellular strategy for treating acute myeloid leukaemia. Michele Jacob, PhD – Tufts University School of Medicine, Medford, MA, USA. A drug to treat brain abnormalities caused by CTNNB1 defects, an ultra-rare disease. Bowen Li, PhD – University of Toronto, Toronto, Canada  A nucleic acid therapy to treat cystic fibrosis, an inherited lung disease. Michael Pacold, MD, PhD – New York University, New York City, NY, USA  Drugs restoring brain function in rare metabolic diseases.   Carlo Rinaldi, MA, MD, PhD – University of Oxford, Oxford, UK  Nucleic acid therapy for spinal and bulbar muscular atrophy (SBMA), a rare X-linked neuromuscular condition. Tim Yu, MD, PhD – Boston Children's Hospital, Boston, MA, USA  Custom DNA-based therapy for a rare genetic disorder (PEX1 Zellweger Syndrome). Haiyan Zhou, MD, PhD – University College London, London, UK Nucleic acid therapy to treat loss of sensation and paralysis caused by a rare mutation. Read more: https://lnkd.in/dqh9WEtP

Lord Cameron, Chair of our Advisory Council, highlights on Sky News the Oxford-Harrington mission to accelerate therapeutics development for rare diseases, and the compelling motivations behind his involvement. See more here: https://lnkd.in/d8wsFYqb

Following the announcement of his role as Chair of our Advisory Council, Lord Cameron highlights in this video the Oxford-Harrington Rare Disease Centre as a brilliant collaboration between two great institutions, University of Oxford and Harrington Discovery Institute at University Hospitals , translating science into medicines that make a difference. Read more: https://lnkd.in/d8wsFYqb.

Former UK Prime Minister David Cameron Joins the Oxford-Harrington Rare Disease Centre as Chair of our Advisory Council. As Chair of the OHC Advisory Council, Lord Cameron will lead the international efforts of the OHC in its philanthropic mission, build partnerships, expertise and networks, while also focusing on extending global awareness of the OHC and its objectives. Lord Cameron said: “Of the causes I have advocated, this one really is very personal. Setting up Genomics England and establishing a world-leading database with hundreds of thousands of genomes is one of my proudest achievements as Prime Minister. Yet, to be truly transformational, genomics requires the best of academia, life sciences, pharmaceutical companies, philanthropy and venture capital from around the world to come together. That is what the Oxford-Harrington Rare Disease Centre sets out to do, convening those key players and uniting around a bold mission: to deliver 40 new treatments for rare diseases in the next decade. “As a father I know all too well the impact of rare diseases. We miss our son Ivan, who had a rare neurological disease, every day – all these years on our loss is still so raw. But the steps we are taking now means that, in the not-too-distant future, families like ours will have hope. It is vital that we try to give it to them.” Read more: https://lnkd.in/d8wsFYqb