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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Dec
09
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 drug development sponsors seeking to implement real-world evidence solutions where the data generated can be used for a range of...
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Nov
18
London, Canada, November 18, 2021—Pulse Infoframe and the Loulou Foundation have announced a collaboration to leverage Pulse Infoframe’s novel globally unique identifier (GUID) model to enable linkage of data from the CANDID clinical study, an observational endpoint study on CDKL5 deficiency disorder (CDD) recently announced by the Loulou Foundation. This...
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Sep
30
London, Canada and Tucson, Ariz., U.S. (September 29, 2021) – Critical Path Institute (C-Path) and Pulse Infoframe announced today their collaboration to advance technologies and tools to further rare disease research and drug development. In addition, both organizations will support the creation of more streamlined and transparent informed consent processes...
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