Research Opportunity - Dr. Bayat
About Dr. Bayat and the Study
Dr. Allan Bayat, a pediatric neurologist based at the Filadelfia Epilepsy Hospital in Denmark, is doing a study on adults with KBG syndrome. He is interested in rare genetic disorders such as, but not limited to, KBG syndrome.
Dr. Bayat's research is intended to describe the symptoms in children and adults with such rare disorders, understanding if and why different mutations in certain genes cause different symptoms (also known as genotype-phenotype correlations). The research, it is hoped, will help in guiding or adjusting the medical treatment and clinical follow-up based on the mutation (also known as personalized medicine).
He believes that knowing what symptoms adults with KBG are facing and struggling with will benefit all patients with KBG syndrome as well as their families and healthcare providers. Since mainly children with KBG have been studied, little is known about the natural history of the syndrome into adulthood. Dr. Bayat hopes to increase this understanding by collecting clinical data on adults with KBG syndrome using the present questionnaire.
