We are the fathers of two patients with a newly diagnosed syndrome that is highlighted in the study by Enns et al.1 Our children are two among a handful of others in the world with this disease caused by mutations in the NGLY1 gene. It is the first recognized disorder of deglycosylation. We fully antici- pate that NGLY1 will generate many interesting studies for years to come, but promoting NGLY1 is not our aim here. Instead, we would like to provide you with our perspective on a shift that is occurring in clinical diagnostics. Families of children with serious genetic diseases often enter a diagnostic odyssey, moving from gene to gene in the hope of finding an explanation for the condition. Two new developments in genetics promise to dramatically shorten the time to reach a successful diagnosis: next-generation sequencing (NGS) and family engagement through social media. The very speed with which Need et al.2 and Enns et al. were published suggests a new model for clinicians and researchers. In this model, families, patients, and scientists work jointly to find new patients, confirm or refute hypotheses, exchange clinical information, enhance collaboration methods, and support research toward understanding and treatment.
Article originally published in Nature
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