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The Leaders and Lifetimers of the Rare Disease Community: Meet the 2022 Black Pearl Awardees

février 2022

The countdown to the Black Pearl Awards Ceremony is officially on, with just 4 days to go! In this article of our Meet the Awardees series, we are turning the spotlight towards this year’s recipients of the coveted EURORDIS Leadership Award and the EURORDIS Lifetime Award.

The Black Pearl Awards were created to acknowledge and celebrate outstanding commitments to the rare disease community, and if you haven’t already, you can register now to join this celebration of the rare disease community virtually on the 8th February from 18.00 Central European Time!

Who are this year’s recipients?

Being a recipient of the Lifetime Achievement Award is no small feat. This award was created to honour those who have spent their whole life actively working to improve lives. There are many extraordinary individuals who have spent their lives advocating passionately for people living with a rare disease, but this year our Lifetime Achievement Award recipient is Dr. William Gahl, who is both a scientist and a mentor, whose advances and accomplishments in the field of rare diseases truly deserve acknowledgement.

“Receiving the EURORDIS Lifetime Achievement Award is an incredible honour for me. There are many types of recognition, but the most meaningful comes from the people and organisations who share the same mission in life. EURORDIS embodies that aspiration, that is, to improve the lives of persons with rare diseases.” – Dr. William Gahl

The EURORDIS Leadership Award celebrates those trailblazing a brighter future for the rare disease community, those in leadership roles who are  role models for patient advocates across rare diseases. This year we wish to recognise the work of Dr. Anne-Sophie Lapointe, one of the rare disease community’s strongest patient advocates. Having held many leadership positions, including at the French Ministry of Health, Vaincre les Maladies Lysosmales (VML), Conseil National de l’Alliance Maladies Rares and the Comité d’éthique de l’INSERM, this makes her the perfect candidate for the Leadership Award.

Why have they been chosen to receive the awards?

The category of Lifetime Achievement is dedicated to those who demonstrate a lifelong dedication to the rare disease community. This year, we wish to celebrate Dr. William Gahl’s lifelong dedication to addressing the needs of people living with a rare and undiagnosed disease. Notably, he has played a key role in the creation of the Undiagnosed Diseases Network (UDN) within the National Institutes of Health, which has helped discover numerous new genetic disorders, and his lab also contributed to the discovery of the genes responsible for several conditions such as the Hartnup disease. When tasked with the question of which areas of his outstanding work for rare diseases he is most proud of, he gives three main points, “I am most proud of three main accomplishments in the field of Rare Diseases. Scientifically, I feel good about discovering the basic defect in cystinosis, becoming a world expert in the disease, and helping to develop a treatment. As a mentor, I am proud to have trained 42 board-certified biochemical geneticists and to have established the American Board of Medical Specialties certification in Medical Biochemical Genetics. Finally, I think that the NIH Undiagnosed Diseases Program has provided a model for others to emulate throughout the world.”

Dr. Anne-Sophie Lapointe is a dynamic force driving positive change in health ethics. Since 1998, she has been involved in the field of rare diseases and has dedicated many decades to the cause. She is highly motivated by her own personal connection to Hunter disease as the mother of a child living with this rare disease. Having achieved a PhDin bioethics, focusing her thesis on the treatment of chronic pain using complementary techniques, and a master’s degree in economics, she is a force to be reckoned with! Her areas of expertise include working with patient associations, data challenges, building links with European and international partners and shaping policy.

A huge congratulations to Dr. William Gahl and Dr. Anne-Sophie Lapointe, and don’t forget to register to watch our recipients accept their awards from the comfort of your own home!

By Clara Maddison, EURORDIS Digital Communications Intern