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Expanding rare disease horizons Developing a diagnostic algorithm for...
In the absence of genetic testing, is there a clear way forward with diagnosing and treating rare genetic diseases?
A great challenge in rare disease research is finding enough affected individuals to create large cohorts. In addition to limited logistical or financial access to NGS, clinicians are often left to rely solely on observed symptoms. Unfortunately, clear guidelines on facilitating diagnoses and care for many diseases in resource-limited settings are non-existent.
In this webinar, Claudio de Gusmao, director of the Pediatric Movement Disorders Program at the University of São…
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