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 […]
Month: May 2017
Global Genes® to Convene RARE Partnering and Investor Forum to Accelerate Drug Development for Rare Diseases
[Aliso Viejo, CA] May 19, 2017 – Global Genes®, a leading rare disease patient advocacy organization, will host the inaugural RARE Partnering and Investor Forum, […]
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 […]
Three new medicines cleared for use by NHS Scotland
The Scottish Medicines Consortium has endorsed three medicines for routine use by NHS Scotland, offering new options to treat a rare eye disease, lupus and […]
NORD Launches Free CME Program to Educate Medical Professionals about Rare Diseases
he National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing the 30 million Americans with rare diseases, announces the launch of a […]
A Nuanced Message: Marketing to the Rare Diseases Community
Check traditional marketing strategies at the door, because when it comes to rare diseases they simply don’t apply. Experts say established methods of directing campaigns […]
PatientsLikeMe and Shire to co-develop rare disease patient network
PatientsLikeMe and Shire are to work together to better understand rare disease patient health and disease progression. PatientsLikeMe is now a well-established online community of […]
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 […]