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 Paulo, will show how his team developed a diagnostic and management algorithm using KCNA1 mutation-driven episodic ataxia type 1 (EA1) and CACNA1A mutation-driven episodic ataxia type 2 as a model. De Gusmao will explore how:

• Specific clinical variables can assist in the differential diagnosis of EA1 vs. EA2, such as attack duration, triggers, interictal symptoms, and more.

• Statistical analyses of published cases can potentially advance rare disease research.

• Comprehensive, human expert-curated variant data such as from Human Mutation Gene Database (HGMD) Professional can help streamline the process of vetting variants and published studies in preparation for systematic literature reviews.