GenomeWebinars

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.

Understanding the role of BRAF mutations in metastatic colorectal cancer (mCRC) can enhance prognostic insights and therapeutic decision making. In this webinar, Michelle Shiller, national medical director of genomics and molecular pathology services at PathGroup, will educate participants on the epidemiology of mCRC, the importance of BRAF as a prognostic and targetable biomarker, methods of testing for BRAF mutations, when to test patients with mCRC for BRAF mutations, and the role of multidisciplinary collaboration in testing.

Attendees will learn:

• The epidemiology of mCRC.
• The importance of testing for BRAF in mCRC.
• The importance of multidisciplinary team collaboration.