Exploring Rare Diseases Archives -

Ring Chromosome 20 Syndrome, or (R)20, is an ultra-rare form of epilepsy with a devastating impact – yet

Ring 20: Could the rare disease get left behind by next-generation gene sequencing?

https://pharmaphorum.com/views-analysis-patients/ring-20-could-the-rare-disease-get-left-behind-by-next-generation-gene-sequencing/

Delayed diagnosis, lack of awareness, and a limited evidence base – Aarskog syndrome faces all the challenges of

Flying the flag for research in Aarskog syndrome

https://pharmaphorum.com/views-analysis-patients/flying-the-flag-for-research-in-aarskog-syndrome/

Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for

The future of genomic medicine: can it fulfil its promises?

https://pharmaphorum.com/views-analysis-patients/the-future-of-genomic-medicine-can-it-fulfil-its-promises/

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much

Searching for answers in rare epilepsy

https://pharmaphorum.com/views-analysis-patients/searching-for-answers-in-rare-epilepsy/

Exploring Rare Diseases