Division of Clinical and Translational Genetics : Genetics of Rare Disease Program

Genetics of Rare Disease Program


Rare disease is defined as a condition that affects less than 1 in 1,500 people. Thousands of genetic disorders fall under this category. Some relatively common disorders such as intellectual disability, birth defects, hereditary deafness, vision loss, or autism are also rare disease when the frequencies of underlying genetic defects are considered. While individually rare, they are responsible for a high percentage of morbidity and mortality at all ages.

Diagnosis, clinical management, treatment, and counseling of rare genetic diseases require special expertise since most of these disorders are not included in traditional medical education.

Underlying genetic defect is not known in many recognized rare diseases. Even for those with a genetic defect identified, precise mechanism remains often elusive. Developing treatment or cure for rare disease requires good understanding of the underlying cause.

In the past decade, UM geneticists discovered the underlying genetic defect in >50 rare disorders. These include syndromic and nonsyndromic forms of hereditary deafness, a variety of neurological disorders, heart defects, intestinal anomalies, eye diseases, skeletal malformations, and intellectual disability.

We provide care for patients with rare diseases at all ages in our clinics

Research Publications:

Dr. Mustafa Tekin

Dr. Stephan Z├╝chner