Uncategorised Archives

Rare Disease Panel Discussion

November 2023

Karen was a panellist at RareSummit23 Karen was a panel member for a session at Raresummit23 hosted by CamRARE. She formed part of the panel for the ‘Advanced Therapies: Navigating Challenges and Fostering Collaboration for Patient Access’ session. This was focused on cell and gene therapies for rare diseases, and the question of whether there is “adequate service provision, staffing and infrastructure in place to deliver each and every gene therapy safely, effectively and efficiently?”.

The role of Genetic Counsellors

November 2023

Willow Foundation

November 2023

Helping young adults with serious illness Willow Foundation are dedicated to helping young adults take much needed time out from the reality of living with serious illness.

The London Rare Disease Showcase

November 2023

We will be exhibiting at the event We are proud to announce that we will be exhibiting at Beacon for Rare Disease’s event, The London Rare Disease Showcase on 27th November

Share your diagnostic journey

November 2023

As part of a book about the concept of ‘diagnosis’ Dr Suzanne O’Sullivan, a consultant neurologist based at the National Hospital for Neurology, London, is writing a book about the concept of ‘diagnosis’. It includes a discussion of genetic diagnosis, all the great strides that have been made but also considering all the implications of a genetic diagnosis and how they are managed.

‘A Rare Find’ short film

November 2023

Newborn Screening Collaborative production As a member of the Newborn Screening Collaborative, we are excited to announce that ‘A Rare Find’ is ready to watch!