The expert physicians and staff of the Rare Genetic Disease Program can work with your local physician to coordinate and manage your medical care where you live.

Often one trip per year to Cincinnati is all it takes for you to receive individualized treatment and management plans.

We focus on the following rare disease areas:

Lysosomal Storage Disorders

Lysosomal storage disorders are a group of more than 40 rare genetic conditions. A change in genetic information stops the body from making a specific protein called an enzyme. When the enzyme is missing, the body cannot break down compounds properly. This leads to build up of a compound in the lysosomes of a cell causing damage to the cells and tissues.

  • Examples of lysosomal storage disorders include mucopolysaccharidosis type I (MPSI), Fabry disease and Gaucher disease.

RASopathies

RASopathies are a group of genetic conditions caused by changes in genes in the RAS pathway. The RAS pathway is a process that helps tell the body how it should grow and develop. When a genetic change occurs and the pathway does not work correctly, many things can be seen including heart disease, developmental delay, feeding difficulties and short stature.

  • Examples of RASopathies include Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Skeletal Dysplasias

Skeletal dysplasias are a group of more than 300 disorders in which the cartilage or bone does not grow as expected. These disorders can result in short stature, soft or brittle bones, physical disfigurement and impaired bone and joint function.

  • Examples of skeletal dysplasias include achondroplasia, diastrophic dysplasia and Stickler syndrome.

If you or a loved one has a rare disease that doesn’t fall under these categories, contact the Division of Human Genetics regarding your care.