Translating RNA Splicing Analysis into Diagnosis and Therapy
by
Andrew G.L. Douglas
and
Diana Baralle
Andrew G.L. Douglas
and
Diana Baralle
Abstract
A large proportion of rare disease patients remain undiagnosed and the vast majority of such conditions remain untreatable whether diagnosed or not. RNA splicing analysis is able to increase the diagnostic rate in rare disease by identifying cryptic splicing mutations and can help in interpreting the pathogenicity of genomic variants. Whilst [...]
Vidhi is a Clinical yoga therapist; mentor for yoga therapy training in Krishnamacharya tradition. She holds a MSc in Public health from Kings College London.
Mirela Olympia Fagarasan Palmer
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Zhong-Ting (Justin) is a PhD student from Nanyang Technological University (Singapore). He holds BSc in Applied Chemistry and MSc in Environmental Engineering. He was a R&D researcher of NanoMaterials Technology Pte Ltd in Singapore (2006-2012). His current research interests are functional nanomaterials synthesis & design, and their application into environmental/chemical engineering. He has published near 60 SCI papers in Applied Catalysis B, Chemical Engineering Journal and so on with H-Index 23. He also serviced as reviewers over 40 Journals such as Appl. Catal. B, Water Research, Chem. Eng. J, ACS Applied Materials & Interface, etc. He was honored such as “The Bsic Research Achievment 1st Award of CIESC”, “The ZJUT Fund Breeding Distinguished Young Scholars” etc.
Rolf Teschke studied Medicine in Munich and Marburg, where he finished his MD thesis before starting a residency at the Department of Pathology, University of Marburg. Subsequently and with a fellowship of the Deutsche Forschungsgmeinschaft, he worked at the Bronx VA Hospital/Mount Sinai Hospital in New York during 1972–1975 together with Professor Charles S. Lieber and successfully isolated MEOS and expanded its characterization. Back in Germany, he was at the Heinrich-Heine University in Düsseldorf with a focus on alcoholic liver disease, biochemical drug studies, and clinical intoxications by halogenated aliphatic hydrocarbons, where he became a Professor of Medicine. In 1987, he was offered a chief position and appointed as Director of the Medical Department II, City Hospital Hanau, Teaching Hospital of the Johann Wolfgang Goethe University Frankfurt/Main. His clinical and research interests are on liver injury by drugs and herbs including causality assessment by RUCAM in close association with Dr. Gaby Danan in Paris. A perfect cooperation exists also with Professor Tran Dang Xuan of the University of Hiroshima, Japan. Finally, he is the author of more than 275 publications including books and book chapters, and he is editor in chief of scientific journals and member of editorial boards.