Humane Resources: Funding Restrictions in Rare Rheumatic Diseases
As any rheumatologist knows, most non-medical individuals don’t really know what ‘rheumatology’ is. Not so much of a bad reputation, as no reputation. Relatives and […]
Ultra Rare
Rare Disease Clinical Development: The Crucial Need for Patient and Parent Involvement
LuAnn Sabounjian, Head of Clinical Operations & Drug Safety, PROMETRIKA, LLC Rare Disease Clinical Trials February 28th, 2017 was the tenth observance of Rare Disease […]
Living with a rare disease: a husband and father’s perspective
What does rare disease mean to you? To me, rare disease means a mutation called R1016X in a gene called NLRP12 on my son’s and […]
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.
Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. New paper from Orphanet J Rare Dis. 2017 Apr 11;12(1):68. doi: […]
We must act as England falls behind on access to rare disease medicines
It is crucial that we develop a bespoke process to evaluate ‘orphan’ medicines if we are to eradicate inequality in the system, says Sebastian Stachowiak […]
App-based tool for clinicians using facial recognition, AI and genetic big data to improve rare disease diagnosis and treatment
Boston startup FDNA, which makes a suite of apps called Face2Gene that use facial analysis, artificial intelligence and genomic insights in hopes of improving diagnoses […]
A New Gene Therapy Cure Just Treated Its First-Ever Patient
Rarefied Cures This March, a child with severe combined immune deficiency (SCID) became the second commercial gene therapy patient ever. The patient started receiving a drug […]
NLRP12.com’s 2017 Scottish Council Manifesto released
For the 2017 Scottish Local Council Elections NLRP12.com have released their manifesto for council candidates throughout Scotland. We had hoped to be able to get […]
Ultra-rare disease drugs: has access in England just got harder?
Story from Andrew McConaghie on PharmaPhorum New rules on market access introduced by NICE from 1 April will affect most new medicines – but gaining […]