Rare Disease Day, observed on the last day… Feb 27, 2025|Hematologic Disorders,Kidney And Urinary Diseases,Treatment Caplacizumab Combination Therapy in Patients With Acquired Thrombotic Thrombocytopenic Purpura Alix Arnaud, Director of Health Economic and Value… ...
Congenital adrenal hyperplasia is a rare, severe, and lifelong genetic disease of the adrenal gland that impairs its ability to produce sufficient cortisol and leads to excessive production of androgens, resulting in hormonal imbalances. It is reported that an innovative drug has recently been introduc...
As a genetic counselor and patient in the rare disease world, every single week I’m being asked a question about these new “direct-to-consumer” genetic testing options. It can feel like whack-a-mole, with a new company or test being asked about every month. The second you feel like ...
Woman's Rare Disease Causes Her to Stiffen and Fall After a Sudden NoiseJanuary 05, 2022 Sometime last year, a 52-year-old woman visited a hospital in Japan with disconcerting symptoms that had lasted roughly five years but had gradually worsened. Every few months or so, she would experienc...
As we head into World Rare Disease Day this week, I encourage you to share your story. Share it here in the comments, or share it wherever you feel heard. It matters. You matter. #beatingcowdens …in the basket of the shredder
“As part of our commitment to supporting the rare disease community, Upsher-Smith is dedicated to not only maintaining, but enhancing the support and resources available to patients, caregivers, and healthcare practitioners. We encourage attendees to stop by our booths...
The UDNI site has one active link to an educational course: Rare Disease 101 (the subject of this article) [32]. The EJP RD have published two out of a planned four online educational academic courses on aspects of rare disease research; each course runs over a five-week period with ...
“This designation from FDA underscores that significant unmet needs remain in DMD, and it also supports Wave’s innovative and purposeful approach to drug development in the rare disease space,” said Anne-Marie Li-Kwai-Cheung, MC...
It has also introduced four rare disease medicines and medical devices through the “Hong Kong and Macao Medicine and Equipment Connect” policy for patient treatment on the mainland. Earlier this year, the hospital joined for...
Regarding lysosomal disease biomarkers, during the first week CCL18/PARC and ChT decreased (35 ng/mL and 138 nmol/mL/h respectively), but 7-KC was still rising (2944 ng/mL). Three weeks after the diagnosis, 7-KC began to decrease (398 ng/mL). During the first 15 days of admission ...