Research to focus on gene at “heart” of Timothy Syndrome March 24 , 2022, London, Canada—Timothy Syndrome Alliance (TSA) is creating a patient registry for the CACNA1C gene, which encodes... read more →
https://www.youtube.com/watch?v=8lN9cJ841wA&list=PLQbiN4husqo975yJFrtk6PYuachpvitr5&index=19 International Rare Disease Showcase, February 1-3, 2022You start with strategy first - know why you want this, even if you don’t know what it might look like Then you... 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 →
The Myrovlytis Trust is creating a patient registry for Birt-Hogg-Dubé Syndrome (BHD) to better understand the epidemiology of the disease, its prevalence, and the disease trajectory. Their hope is to... read more →
February 17, 2022, London, Canada—The Myrovlytis Trust is creating a patient registry for Birt-Hogg-Dubé Syndrome (BHD) to better understand the epidemiology of the disease, its prevalence, and the disease trajectory,... read more →
https://youtu.be/ngPxLuY6anE?t=11745 Cure and Action for Tay-Sachs CATS Foundation: 8th European Tay-Sachs and Sandhoff Family Conference - Day 2 (10 December 2021)
https://www.youtube.com/watch?v=aXPGeyOavPQ Why and how a small charity in the UK began an international patient registry for a rare disease. Visit https://pip-uk.org/ to learn 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 →
by Dr. Femida Gwadry-Sridhar The FDA recently released guidance on how to characterize real-world data (RWD). I am really glad they have now explained data standards are important and why... read more →
Waltham, MA, December 9, 2021 – A collaboration between Cytel and Pulse Infoframe creates a solution that marks a new direction in research for rare disease. This partnership will support... read more →
