Dr. John Rosendahl Østergaard M.D., professor of neuropediatrics at Aarhus University and head of the Center for rare Diseases at Skejby University Hospital.

For the last 15 years he has shown a special interest and dedication for children with Angelman Syndrome. He has been active in the field of research and the development of diagnosis and treatment for children with Angelman Syndrome.

Patients with Angelman Syndrome have a high incidence of epilepsy and autism. The syndrome is caused by inherited changes of the genes in chromosome 15 that determines the social and intellectual development of the child.

John Østergaard has been the driving force behind the the largest investigation into Angelman syndrome in Denmark on to this day. The aim of the project is to find the incidence of Angelman syndrome in Denmark and the correlation between the  damage of chromosome 15 and the symptoms of the child.

The focus will be on: 1. The effects on size and weight at birth and when growing up. 2. How the changes in the chromosome 15 relates to the development of epilepsy. 3. The connection between the type of damage to the chromosome 15 and the abilities for language and contact. The project will give new insights into the causes of epilepsy and autism and will also internationally be of considerable interest.

John Østergaard has also been a invaluable support for families of Angelman children and has often participated in the meetings of the Angelman Association Denmark with new knowledge and insights. The Angelman families want to underline the importance of the ongoing research and express their deep gratitude by nominating John Østergaard for “Rare Disease Research Hall of Fame”.