GOSH Gene Therapy: A Rare Disease Breakthrough
In 2007, Remi Pereszczak was diagnosed with p47 Chronic Granulomatous Disease (p47-CGD), a rare immune disorder that left him vulnerable to life-threatening infections and chronic inflammation. For years, his life was defined by collapsed lungs, repeated hospital stays, and an inability to eat solid food. The prognosis was grim; conventional treatments offered little relief.
In 2024, he became one of the first patients to receive a gene therapy at Great Ormond Street Hospital (GOSH)Dealroom has a profile for this one. Try Dealroom →, developed with University College LondonDealroom has a profile for this one. Try Dealroom →. His bone marrow stem cells were extracted, genetically corrected using a viral vector, and re-infused. Within weeks, healthy immune cells began circulating, and today about 40% of his immune system functions normally.
Led by Professor Adrian ThrasherDealroom has a profile for this one. Try Dealroom →, Dr. Giorgia SantilliDealroom has a profile for this one. Try Dealroom →, and clinical trial head Professor Claire BoothDealroom has a profile for this one. Try Dealroom →, the programme shows how rare-disease research can drive broader advances, including inherited immune conditions and cancer immunotherapies such as CAR-T.
The therapy was delivered at the Zayed Centre for Research into Rare Diseases in ChildrenDealroom has a profile for this one. Try Dealroom →, which brings research, manufacturing, and treatment under one roof. Opened in 2019 and MHRA-approved since 2023, the centre can now produce therapies for up to 150 children a year. Once considered niche, rare-disease research is now being reframed by GOSH as infrastructure that brings science, care, and scale together.
For patients like Remi, it is the difference between surviving and truly living. For medicine, it signals a future where bespoke genetic treatments become routine rather than experimental.
Source:
C.S.
