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Potential modifier gene identified as cause of ciliary pathology in retinitis pigmentosa patient

Potential modifier gene identified as cause of ciliary pathology in retinitis pigmentosa patient
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Comunidad Autonoma De Cataluna , Spain General , Israel General , Noelia Baz , Gemma Marfany , Health Of Andalusia , Biomedical Research Network On Rare Diseases , Andalusian Public Foundation For Progress , Hebron Research Institute , Professor Gemma Marfany , Biomedical Research Network , Rare Diseases , Andalusian Public Foundation , Noelia Baz Red , Primary Ciliary Dyskinesia , Retinitis Pigmentosa , Possible Modifier Gene ,

Carmen, the girl who holds the key to the treatment of genetic diseases

A scientific and family crusade races against the clock using CRISPR and messenger RNA to find therapy for the little girl, who turned three years old, despite receiving a fatal prognosis when she was only three months old ....

Santiago De Compostela , United States , Laura Bergillos , Emmanuelle Charpentier , Jennifer Doudna , Garcia Santos El Pais , Francis Mojica , Javier Silva , Catarina Allegue , Biomedical Research Network On Rare Diseases , University Of Santiago De Compostela , Spanish Federation Of Rare Diseases , Galician Public Foundation Of Xenomic Medicine , Three Kings Day , Galician Public Foundation , Xenomic Medicine , Molecular Medicine , Chronic Diseases , Biomedical Research Network , Spanish Federation , Rare Diseases , Nobel Prize ,

First gene therapy approach for MLC leukoencephalopathy designated as orphan drug

The European Medicines Agency (EMA) has designated as an orphan drug the first gene therapy approach to treat megalencephalic leukoencephalopathy with ....

Israel General , Biomedical Research Network On Rare Diseases , Catalan Institution For Research , Department Of Physiological Sciences , European Medicines Agency , Institute Of Neurosciences , Hebron Research Institute , Subcortical Cysts , Physiological Sciences , Biomedical Research Network , Rare Diseases , Gene Therapy , Catalan Institution , Advanced Studies ,