On Sunday 29th June 2025, our PTEN UK & Ireland community gathered in Birmingham for a day filled with learning, connection, and support at the annual PTENUKI Patient Day. Held at the welcoming and accessible Sense TouchBase Pears venue in Selly Oak, the event brought together families, patients, carers, clinicians, and researchers — all united […]
Category Archives: Uncategorized
20
Mar
Mar
February 27th marked a memorable and impactful day at the Westminster Parliament Reception for Rare Disease Day, which was graciously hosted by Genetic Alliance. It was an honour to be part of such a significant event, where individuals from across the rare disease space came together to share stories, raise awareness, and work towards positive […]
27
Jan
Jan
Positively Rare is a groundbreaking collection that goes beyond the medical aspects of rare diseases. It’s a celebration of the human spirit, a testament to the strength, purpose, and love that can flourish even in life’s most challenging moments. As Rob Haselberg, a Huntington’s disease gene carrier and rare disease advocate, aptly puts it, “This […]
16
Jan
Jan
We are excited to announce our 6th PTEN Patient Day! This annual event brings together PTEN patients and families for a day of learning, connection, and support. Details are below. Date and venue Date: Sunday, 29th June 2025 Time: 10:00 AM – 4:00 PM Venue: Sense TouchBase Pears, Selly Oak, Birmingham Join us for an […]
22
Sep
Sep
We are excited to introduce you to the Pipgen Art Project, an extraordinary collaboration between science and art! Over the past five months, a cohort of ITN PhD students have worked alongside talented art students from the prestigious Cambridge School of Visual & Performing Arts, creating a unique collection of 15 science-inspired artworks. Each piece […]
06
Jan
Jan
Changing the Narrative in Person-Centred Health and Social Care I wear many, many hats in my day to day life. I work full time as well as writing, advocating, raising awareness for rare genetic conditions, with a side of inclusion activism thrown in for good measure. I’m also a bit of a social media addict. […]