Prof. Dr. Clara van Karnebeek new member of Advisory Board

12 October 2019 | News

Recently Prof. Dr. Clara van Karnebeek has joined the Advisory Board. Clara is a pediatrician and geneticist, associated as a professor of metabolic diseases at the Radboudumc and Amsterdam UMC. She is interested in neurometabolic disorders, and specifically the application of big data technology for early diagnosis and better treatment. She is the founder and director of United for Metabolic Diseases, www.umd.nl, a partnership between 6 metabolic centers and the patient associations.

The members of our Advisory Board assist and advise us in our struggle against PKAN. They give solicited and unsolicited advice to the foundation’s board.

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Over Stichting Kans voor PKAN Kinderen

Op dit moment overleeft geen enkel kind de ziekte PKAN. Ze worden niet ouder dan 15 jaar. Waar eerder geen behandeling mogelijk leek, is onderzoek nu in volle gang en komt een oplossing steeds dichterbij. Samen gaan wij dat mogelijk maken. Help je mee?

About PKAN

PKAN (Pantothenate Kinase-Associated Neurodegeneration) is a hereditary disorder that is categorized in the group of distinct rare disorders featured by an accumulation of iron in the brain of young children. Many individuals with the classic form of PKAN lose the ability to move or walk independently between 10 and 15 years after the initial indication of symptoms and will therefore require a wheelchair by their mid-teens. They often lose the ability to walk, to talk, to swallow and their vision. All this while they are often in a full state of awareness as the mental ability of children suffering from PKAN is not always affected. It is progressive and will ultimately result in the patient’s death at a young age.