A dual perspective on genomic medicine
Dr Charles Steward is the Patient Advocacy & Patient Engagement Lead at Congenica a digital health company based on the Wellcome Genome Campus UK. He has spent 26 years working […]
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Similarities & Differences in Genetic Counselling in the UK and South Africa
Melissa Clasen, genetic counsellor, has recently moved from South Africa to work in London. In this article she discusses some of the unique differences in access to care, support and […]
New Online Tool for Assessing COVID-19 Risk in People With Rare Genetics Diseases
UCL Great Ormond Street Institute of Child Health has responded to the considerable anxiety and confusion among many people living with rare diseases about their level of risk from COVID-19 and the […]
The rare disease patient journey in 2030
Thanks to the wonders of modern technology and an amazingly powerful online platform #ECRD2020 took place virtually on 14th & 15th May. The conference was organised to take place in […]
Fizzy’s SwimRun for Rosie
The Challenge For months Fizzy Keeble and her partner, Mike, have been training in preparation for this Saturday. The challenge? SwimRun Australia – a unique and challenging adventure sport where […]
New Treatment for 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 […]
Rare Disease Day 2020
On this rare day take time to listen to a patient story and decide what you will do to make a difference to 300 million people living worldwide with a […]
Intracranial Hypotension Symposium 2020 Attendance Bursary
We are delighted to be working with the CSF Leak Association who are currently offering a bursary to support a UK-based junior doctor to travel to, and attend, the 3rd annual Intacranial Hypotension Symposium on 8th February 2020 in Los Angeles.
Interested in studying a childhood rare disease or condition?
Each year the British Paediatric Surveillance Unit (BPSU) invite paediatricians planning a surveillance study to apply for this bursary. The successful applicant receives a free slot on the BPSU Orange […]
30% Project: A Conversation About Baby and Child Death
Same But Different is starting the conversation about baby and child death with their newest exhibit ‘30% Project’. It raises awareness of the statistic that 30% of those diagnosed with a rare disease will die before their 5th birthday.