Mar
28
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 rare, inherited condition that is characterized by the development of benign skin tumors (fibrofolliculomas), pulmonary cysts, collapsed lung (pneumothorax), and...
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Mar
24
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 the alpha-1-subunit of a voltage-dependent L-type calcium channel highly expressed in the heart and brain. To better understand the impact...
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Mar
21
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 think about technology, not just for today, but also for the future. Next up, it’s all about engagement - if...
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Mar
17
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 scheme of things and most of the people who suffer from a rare epilepsy are children. Receiving a rare epilepsy...
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Mar
15
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 improve the quality of life for this community and ultimately develop treatments for BHD. For more information about the Birt-Hogg-Dubé International...
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Feb
17
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, to improve the quality of life for this community, and to ultimately develop treatments for BHD. Six hundred families are...
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Feb
02
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)
Jan
25
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.
Jan
20
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 known as the Temple of the Sun and the Temple of the Moon. That the Aztec communities worked together and...
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Dec
14
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 ontologies are the underlying framework to characterize data elements. What does this mean for rare disease organizations and pharma? As...
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