Research Interests

PED MIND INSTITUTE AND HANDICAP LAB

Major research interests are to uncover fundamental principles of curing options of rare pediatric genetic diseases in clinical pediatric research. The focus of our “HANDICAP LAB” is to evaluate “CURING” options but not “TREATING” options for children with these rare diseases. Efforts of research are exploring new curing options in gene therapy, pre- or postnatally as early as possible, to “correct” the genetic changes on DNA-/RNA level as soon as possible.

Ongoing projects include:

Clinical Genetics: Research in Rare Pediatric Genetic Diseases in Childhood

• Focus on Monogenetic Diseases and Curing Options by Gene Therapeutical Interventions
• Achondroplasia and other Short Stature Disorders (Hypochondroplasia, Noonan Syndrom, ACAN Syndrom)
• Autism and the Role of Synaptic Dysfunction in Disease Pathogenesis
• Mucopolysaccharidosis and the Role of Next-Generation ERT Therapy and Future Gene Therapy Options as Curing Option
• Alice in Wonderland Syndrome
• Child Abuse and its Role in our Society