The Kennedy Center is conducting research in a number of rare genetic diseases in the fields of Mental Retardation / Intellectual Disability or Visual Impairment. The aim of our research is to identify disease genes and disease mechanisms with an ultimate goal of improving diagnosis, counselling and eventually treatment of otherwise incurable diseases.
The research in the Kennedy Center is organized in five main research activities:
- Visual impairment and developmental eye disorders
- Mental retardation, development defects and other intellectual disabilities
- Copper metabolism: Functional studies and gene therapy
- Phenylketonuria and related disorders
Specific diseases and areas under these categories include Tourette syndrome, dopa responsive dystonia, the fragile X syndrome, Menkes syndrome, PKU and related disorders, Down syndrome, Rett syndrome and other mental retardation syndromes. Some of the rare genetic eye diseases we work with are aniridia, congenital cataract, congenital glaucoma, retinitis pigmentosa, optic atrophy, microphthalmia, and albinism.