Elsie's Mother Seeks Funding for RARB Research as Fewer Than 100 Cases Are Known
Updated
Updated · The Guardian · Sep 16
Elsie's Mother Seeks Funding for RARB Research as Fewer Than 100 Cases Are Known
1 articles · Updated · The Guardian · Sep 16
Summary
Rare People trustee Elsie’s mother is campaigning for funding and awareness for RARB gene mutation research, including a new podcast on families living with complex rare conditions.
Fewer than 100 RARB cases are known worldwide, and Elsie’s mutation causes progressive neurological problems, blindness and recurring apneas that still require oxygen and can be life-threatening.
ASO therapy is emerging as a potential treatment that could halt progression and reverse symptoms; one personalized case is about to be treated in Austria, while a 200-child program has been developed in the US.
UK genetic scientists, including at Great Ormond Street, want to develop trials but need funding, underscoring the family’s push to make advanced therapies accessible in Britain.
Elsie, born in March 2025 and home since February, has recently shown small gains in feeding, movement and vision, giving her mother reason to press for research despite the uncertain outlook.