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Home > Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey > Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey
Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey
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As scientific innovation in genomic medicine continues to provide more hope for therapeutic options, there is a growing need for patients and families to understand how gene-based testing can contribute to an accurate and timely diagnosis. 

 

Register for a three-part webinar series to gain more understanding and perspective from rare advocates, experts, and leaders who have personal experience with gene-based diagnosis and therapy. The series will take place every other Tuesday during August 2021.

 

If you are unable to attend any of the webinars or would like to view the program again, visit this page to access the archived recording of the program and other resources. 

 

We invite you to submit your questions ahead of time using the registration link.  
 

Webinar Dates and Registration Links:

 

 

Webinar Details:

 

Webinar 1: How to Effectively Partner with a Genetic Counselor to Accelerate Your Rare Diagnosis

Objectives:

  • Find out how a genetic counselor can help you pursue a gene-based diagnosis--and why it matters 
  • Understand the role of various genetic tests (targeted panels, whole exome sequencing, whole genome sequencing) 

 

Speakers:

  • Allison Weisman, MS, CGC, Genetic Counselor at Ann & Robert H. Lurie Children’s Hospital of Chicago
  • Melissa Hayden, Patient Advocate
  • Eleanor Griffith, MS, LCGC, Genetic Counselor at Grey Genetics
  • Daniel DeFabio, Associate Director of Community Engagement at Global Genes 

 


Webinar 2: Diagnosis or No Diagnosis - What's Next? Finding Your Way Through Genetic Testing to a Diagnosis

Objectives:

  • Get advice on managing care, navigating finances and coping with the emotional impact - whether or not you receive a diagnosis
  • Find out what to do if you remain undiagnosed

 

Speakers:

  • Gina Szajnuk, Cofounder and Executive Director at Rare and Undiagnosed Network (RUN)
  • Lorenzo D. Botto, MD, Professor of Pediatrics at University of Utah School of Medicine
  • Daniel DeFabio, Associate Director of Community Engagement at Global Genes 

 

 

Webinar 3: Making Decisions about Genetic Testing, Gene Therapy, and Clinical Trials - Weighing the Options

 

Objectives:

  • Discover tools and techniques to help you make informed choices
  • Gain confidence in communicating and getting the answers you need

 

Speakers:

  • Nicole Glenn, MD, Pediatrician and Rare Advocate at Palo Alto Medical Foundation
  • Meghan Halley, PhD, MPH, Research Scholar at Center for Biomedical Ethics (SCBE) at Stanford University
  • Daniel DeFabio, Associate Director of Community Engagement at Global Genes 

 

 

 

Thank you to our sponsors Applied Therapeutics, Taysha Gene Therapies, and Travere Therapeutics for supporting this program. 

 

 

 

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