The World Orphan Drug Congress (WODC) is one of the leading global conferences that brings together the pharmaceutical industry, researchers, patients and advocates to discuss the latest trends in orphan... read more →
Every parent loves to watch their child fly like a butterfly and discover the world. Although five-year-old Ollie’s variation of CACNA1C means he is developmentally one year old, he plays... read more →
by Dr. Femida Gwadry-Sridhar Have you ever considered the connection between drug development for rare diseases and olive trees in Italy? I assure you, there is one. In September, I... read more →
Shattering Rare Disease Registry Recruitment Targets with PIP-UK Real-world data from registries and other real-world evidence sources remain a fertile ground of opportunity for advocacy groups and biopharma companies to... read more →
A Collaborative Partnership to Develop the CDKL5 Registry CDKL5 Deficiency Disorder (CDD) is a rare developmental encephalopathy with epilepsy that is caused by mutations in the CDKL5 gene. CDD can... read more →
Timothy Syndrome Alliance and Pulse Infoframe are pleased to announce that the CACNA1C Community Registry is open for worldwide recruitment. The registry will aid in research for Timothy Syndrome, non-syndromic... read more →
You would think that, after 22 years in the U.S. Navy, a veteran deserves a break. But like a baseball game, life doesn’t go as planned for many, and it... read more →
The Myrovlytis Trust, BHD Foundation, and Pulse Infoframe are pleased to announce that the BHD International Registry is open for recruitment. What Is Birt-Hogg-Dubé Syndrome? Birt-Hogg-Dubé (BHD) syndrome is a... read more →
By Dr. Femida Gwadry-Sridhar It is astounding when you think about rare diseases and then you hear about rare epilepsies. Sadly, they are really not that rare in the larger... read more →
Visiting a UNESCO World Heritage Site is an incredible experience. Last December, I visited Teotihuacán in Mexico. The pyramids in all their glorious form were striking. The two main pyramids are... read more →
