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RADNOR, Pa. – Marinus Pharmaceuticals, Inc. (Nasdaq: MRNS), a pharmaceutical company dedicated to the development of innovative therapeutics to treat seizure disorders, today announced that due to the impact of the COVID-19 Omicron variant on hospital resources and an unexpected interruption of clinical supply material associated with IV ganaxolone, the... -
Over 90 percent of patients with transfusion-dependent thalassemia, an inherited blood disorder, no longer needed monthly blood transfusions years after receiving gene therapy, according to an international Phase 3 clinical trial that for the first time included children younger than 12 years of age. Twenty-two patients were evaluated (ranging in...
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City of Hope, one of the largest cancer research and treatment organizations in the United States and a leading research center for diabetes and other life-threatening illnesses, today announced that its Department of Stem Cell Biology and Regenerative Medicine received a $4.9 million grant to train the next generation of...
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Rare disease spotlight
The research found severe deficits in the information available to health professionals and found that a centre of excellence on rare disorders would offer a key support service to GPs @a_j_mcknight @sujas15 https://twitter.com/22Q11_Ireland/status/1576543021444628480
An investigation into the social support needs of families who experience rare disorders on the island of 🇮🇪
://www.fedvol.ie/An_investigation_into_the_social_support_needs_of_families_who_experience_rare_disorders_on_the_island_of_Ireland/Default.1264.html#.Yzl9Sjy6tdE.twitter
đź’•đź’•đź’•đź’• https://twitter.com/Cure_Cole/status/1576312956312522758
When living and caring for someone with #SYNGAP1 or any #raredisease, you try to look at the world from their perspective…after all, perhaps it’s actually we who are upside down 🤷🏼‍♀️
1/ I was asked to write an editorial on face masks for kids in educational settings
My conclusion?
We need to stop masking children in educational settings because, after nearly 3 years of the pandemic, there is no robust evidence of benefit
Short🧵
👉 https://www.sciencedirect.com/science/article/pii/S0163445322005497?utm_campaign=STMJ_AUTH_SERV_PUBLISHED&utm_medium=email&utm_acid=112163948&SIS_ID=&dgcid=STMJ_AUTH_SERV_PUBLISHED&CMX_ID=&utm_in=DM300589&utm_source=AC_
We have given $30,000 in the last 3 years to The SYNGAP1 Center of Excellence that has yielded 1 EEG Biomarker, 1 validated Sleep Endpoint, and 2 outcome measures in our funded gait, sensory processing and quality of life