rare genetic condition Archives - Medics For Rare Disease

rare genetic condition

5th November 2025

When the Rare is Common: Living with Ehlers-Danlos Syndrome

Jo McPherson Health & Medicine, Medical Education, Patient Stories, Rare Diseases Chronic Illness, EDS, Elhers-Danlos Syndrome, Med Student Life, Misdiagnosis, Patient Story, rare disease, rare genetic condition 0

When the Rare is Common Hi, I’m Alisha. I’m 26, a medical student, and I have Ehlers-Danlos Syndrome (EDS). Most people haven’t heard of it before, but it’s a rare genetic […]

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15th May 2020

Patient Registry for Bardet-Biedl Syndrome

Jo McPherson daretothinkrare, disease, medicalstudent Bardet-Biedl syndrome, Data, patient registry, rare genetic condition, UCL

We’re working with UCL to find someone to help develop a patient registry for BBS UCL are setting up a professional registry for people in the UK with the rare genetic condition […]

31st March 2020

New Treatment for Spinal Muscular Atrophy

Jo McPherson daretothinkrare, disease, doctor, Research, Uncategorised genetics, rare genetic condition, SMA, Spinal Muscular Atrophy

written by Dr Thomas Dunne What is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a rare genetic condition that causes progressive weakness and wasting of the muscles. It is […]