Publication of the new UK Rare Diseases Framework

Lord Bethell

I am delighted that today the Department of Health and Social Care has published the UK Rare Diseases Framework, which replaces the previous UK Strategy for Rare Diseases published in 2013. As the Minister responsible for rare disease policy in England, it is an honour to be able to continue driving forward the important work that […]

Family Fund: Sulaiman’s Story

Family Fund is the UK’s largest charity providing grants for families raising disabled or seriously ill children and young people. Last year, we provided 88,407 grants and services worth over £33 million to families across the UK. Our grants help break down some of the many barriers faced by families raising a disabled or seriously […]

How Family Fund Grants help disabled children and families

Family Fund is the UK’s largest charity providing grants to families raising disabled or seriously ill children and young people. We know that families raising disabled children face significant barriers, and our grants aim to help break down some of these barriers and ease the additional pressures that families face. Every year, we help tens […]

The importance of patient involvement in stem cell research

This blog was written by Reena Halai who is the Project Manager for the Human Induced Pluripotent Stem Cell Initiative (HipSci), based at the Wellcome Trust Sanger Institute. Here she talks about the importance of providing scientific researchers with an open access induced pluripotent[1] stem cell resource for the study of rare diseases. What is HipSci? The Human […]

We need high quality data to understand the causes of rare diseases

I am a Public Health Consultant and joined Public Health England specifically to establish the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), so I am excited to update you on our progress, to highlight why what we do is so important, and to tell you about our plans for the future.   Public […]

“The clock is ticking on the lives of tuberous sclerosis complex patients”

Jayne Spink, CEO of the Tuberous Sclerosis Association, writes about the impact of delays in patients’ access to treatments for tuberous sclerosis complex, highlighting some of the problems with the current system for commissioning medicines in England. Tuberous sclerosis complex (TSC) is a rare genetic condition estimated to affect one million people worldwide. It can […]

Tell your rare disease story

Are you interested in writing a blog about your experience of rare disease? Whether you live with a condition yourself, or are a family member or carer for someone who does, we want to hear from you! We believe that sharing real life experiences of rare disease is essential to raising awareness about the issues […]

7 things I dont have to tell my GP about rare conditions

Rare conditions can be challenging for our doctors because, as everyone reading this will know, most of these diseases have no treatments or cures. Doctors want to help us get well and be able to reassure us that we will. This isn’t an option for many rare conditions patients, much as we wish it was. […]