Genetic Testing to Enhance the Value of a Patient Registry: A Case Study in the Inherited Retinal Dystrophies
Feb 08, 2019
Webinar information
Date: February 26, 2019
Time: 10:00 AM PST / 19:00 PM CET
Duration: 1 hour
Speaker: T. Alastalo, K. Branham, K. Trzupek

Date: February 26, 2019
Time: 10:00 AM PST / 19:00 PM CET

In partnership with the Foundation Fighting Blindness

Extensive research together with the revolutions in DNA sequencing are transforming the field of inherited retinal diseases (IRD). Among the human rare diseases, inherited retinal dystrophies represent a great example of an area that has progressed a lot in the past few years. This does not only include our increasing understanding of the molecular pathology of these diseases but also the developments in targeted therapies.

Large multi-center research initiatives with wide collaboration between scientists and clinicians is an essential strategy when advancing any field in the human rare disease space. Foundation Fighting Blindness My Retina Tracker® program is a great example of such an initiative.

This webinar will give an overview of the My Retina Tracker patient registry program, overview of the genetic testing program within the patient registry, preliminary results and experiences from the study on thousands of IRD patients, and a peek at the coming developments in the program.

This educational webinar is presented by Kari Branham MS, CGC, clinical assistant professor (The Kellogg Eye Center); Karmen Trzupek, MS, CGC, director, ocular and rare disease genetics services (InformedDNA); and Tero-Pekka Alastalo, PhD, MD, chief medical officer (Blueprint Genetics).

Key topics

  • Introduction to My Retina Tracker program (MRT)
  • Overview of results from the study: enhanced information in MRT and increased access to genetic testing for patients
  • Value of genetic testing and genetic counseling for IRD community: why genetic testing is important
  • Introduction of case examples
  • Utilization of comprehensive NGS-based diagnostics– what are we learning with comprehensive testing of IRD patients?


Webinar video and content: Copyright © 2020 Blueprint Genetics. All trademarks are property of their respective owners.


Tero-Pekka Alastalo

Tero-Pekka is the Executive Director of Medical, and also a co-founder at Blueprint Genetics. He is based in San Francisco and holds various responsibilities in the North American operations of the company. Tero-Pekka has an MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular disease.

Kari Branham

Kari Branham, MS, CGC is clinical assistant professor at the University of Michigan. She is also a genetic counselor at the Inherited Retinal Dystrophy Clinic. Her areas of interest are genetic studies of age-related macular degeneration and X-linked retinitis pigmentosa.

Karmen Trzupek

Karmen Trzupek, MS, CGC is the director of ocular and rare disease genetics services at InformedDNA. She has been a certified genetic counselor since 2005 and holds an MS in genetic counseling from Northwestern University. Karmen is passionate about increasing access to genetic services for patients with rare genetic diseases.

Last modified: October 30, 2020