It is with great pleasure that you are invited to the Retina International Lifetime Achievement Awards Ceremony taking place on Tuesday 23rd at 7pm CET as part of Rare Disease Week 2021.
This years awards will be proudly presented to Dr. Frans Cremers for his lifelong dedication to the discovery of the genetic makeup of inherited retinal degenerative diseases, and to Dr. Frank Brunsmann (Germany) for his pioneering work as a patient advocate to support the genetic discovery in choroideremia.
The stories of Frans and Frank’s work are intertwined, and truly remarkable at that. Frank Brunsmann, a choroideremia patient, came to know Frans’s work in 1986, and personally collected blood samples from ~10 choroideremia cases from the Munster region in Germany. In 1987, Frank travelled to Frans’s lab in Nijmegen with these samples, one of which being his. Of the 20 markers tested, one detected a deletion in three DNA samples. That very finding kickstarted the identification of the choroideremia gene that we finally published in 1990.
Click here to read the paper on these breakthrough deletion findings.
The microdeletion paper was the first of a few papers that led to the identification of the choroideremia gene in this Nature paper in 1990.
Frans and Frank’s unique story is a testament to the power of patient-research relations, and a call to hope for a brighter future where a cure for all inherited retinal degenerations is no longer a dream but a lived reality.
We look forward to welcoming you, our valued membership and esteemed colleagues, as Frank and Frans share their story and we recognise their significant and longstanding contributions to the global retina community.
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