The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients

Autor: Sergey Moiseev, Ekaterina Tao, Alexey Moiseev, Nikolay Bulanov, Ekaterina Filatova, Victor Fomin, Dominique P. Germain

Publikováno v: Genes; Volume 13; Issue 9; Pages: 1619

Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15754afeb4f9318fd9280950c746bdab
https://pubmed.ncbi.nlm.nih.gov/36140787

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Autor: Fellype C. Barreto, Nan Chen, Huda Al Khawaja, Faisal Al Ismaili, Dau-Ming Niu, Sergey Moiseev, Gheona Altarescu, Sergey Kutsev, Sheela Nampoothiri, Mirelle Kramis, Long-Sun Ro, Juan Politei, Dominique P. Germain, Farid Haddoum, Fernando Suárez-Obando, Irina Maksimova, Dung Vu Chi, Khanh Ngoc Nguyen, Fatemeh Hadipour

Publikováno v: Molecular Genetics and Genomic Medicine
Molecular Genetics and Genomic Medicine, Wiley, 2021, 9 (5), pp.e1666. ⟨10.1002/mgg3.1666⟩
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)

Background Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available. Fabry disease, an X‐linked lysosomal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3859260d88426bdf394d02f1263bb9
https://hal.archives-ouvertes.fr/hal-03256438/file/mgg3.1666.pdf