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Mashup Score: 0Application of Novel Technologies in Lysosomal Disorders - CheckRare - 11 month(s) ago
Learn about the incidence of Pompe disease, the importance of reproducibility in LSD research, and about diagnostic tools used for LSDs.
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Mashup Score: 0Myasthenia Gravis and Targeted Therapies - CheckRare - 11 month(s) ago
Dr. Sindhu Ramchandren explains the pathophysiology of myasthenia gravis and the need for more targeted therapies.
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Mashup Score: 0Rett Syndrome and the National Institute of Neurological Disorder and Stroke (NINDS) - CheckRare - 11 month(s) ago
Laura Mamounas PhD, Program Director at the National Institute of Neurological Disorder and Stroke (NINDS) at the NIH in Bethesda, discusses Rett syndrome research at her organization. Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to
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Mashup Score: 0Cutaneous T-Cell Lymphoma - CheckRare - 11 month(s) ago
Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. Cutaneous T-cell lymphoma is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people and represents around 70% of primary cutaneous lymphomas.
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Mashup Score: 0
Dr. Rakesh Jain, from Texas Tech University School of Medicine – Permian Basin, discusses newly approved deutetrabenazine extended-release tablets for chorea associated with Huntington disease.
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Mashup Score: 0New Treatments in Development for Fabry Disease - CheckRare - 11 month(s) ago
Jack Johnson, Executive Director of the Fabry Support and Information Group (FSIG) discusses the many research advances being made in Fabry disease.
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Mashup Score: 2Rett Syndrome - CheckRare - 11 month(s) ago
Rett syndrome is a multisystem disorder that primarily affects girls; multiple loss-of-function mutations to the MECP2 gene are the cause of this rare disease.
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Mashup Score: 0Common Concerns About Galactosemia - CheckRare - 11 month(s) ago
Brittany Cudzilo, of the Galactosemia Foundation, discusses some of the common questions parents have about galactosemia.
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Mashup Score: 0Atacicept Shows Promise as IgA Nephropathy Treatment in Interim Analysis - CheckRare - 11 month(s) ago
Dr. Jonathan Barratt, from University of Leicester, discusses data from a phase 2b trial evaluating atacicept to treat IgA nephropathy.
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Mashup Score: 0Gene Therapy and Pompe Disease: Preliminary Results From Phase I/II Study With AT845 - CheckRare - 11 month(s) ago
Dr. Jordi Diaz-Manera discusses the latest results from an ongoing phase 1/2 clinical trial testing gene therapy in patients with late-onset Pompe disease.
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Ryan Colburn, Independent Researcher/Consultant/SME (& Patient Advocate), Filippo Pinto Vairo, MD, PhD, @MayoClinic, Tarik Ozbolat, PhD, @penn_state and Artem Barski, PhD, @CincyChildrens discuss application of novel technologies in #lysosomaldisorders https://t.co/SkQRu0q8Il https://t.co/ZVGPnwrFNK