Developing Recombinant Protein to Treat Ultra-Rare Hematology Disease cTTP with Dr. Björn Mellgård Takeda TRANSCRIPT
Download PDFAug 21, 2023
Dr. Björn Mellgård, VP and Global Program Lead of rare genetics and hematology at Takeda, is passionate about finding a cure for cTTP, congenital thrombotic thrombocytopenic purpura. This ultra-rare disease, caused by an enzyme deficiency, presents in early childhood and results in life-threatening blood clots....
Aug 21, 2023
Dr. Björn Mellgård, VP and Global Program Lead of rare genetics and hematology at Takeda, is passionate about finding a cure for cTTP, congenital thrombotic thrombocytopenic purpura. This ultra-rare disease, caused by an enzyme deficiency, presents in early childhood and results in life-threatening blood clots....
How Genetic Testing and Real-World Evidence Based Research Shed Light on Ultra-Rare Disease FOXG1 with Nasha Fitter FOXG1 Research Foundation TRANSCRIPT
Download PDFJul 7, 2023
Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using...
Jul 7, 2023
Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using...
Importance of Whole Genome Sequencing for Diagnosing and Treating Children with Neurodevelopmental Disorders with Dr. Deb Ondrasik CACNA1A Foundation TRANSCRIPT
Download PDFMay 31, 2023
Dr. Deb Ondrasik is a pediatrician based in Massachusetts, and the topic today is the CACNA1A Foundation and its work on raising awareness about developmental disabilities. Deb's daughter was diagnosed in 2015 as one of eight children worldwide with a CACNA1A gene mutation causing epileptic encephalopathy. This is a...