Genetic Disorders

Care from Birth Through Adulthood

Duke’s pediatric medical geneticists diagnose and treat rare genetic disorders, whether they are diagnosed before birth or later in life. These conditions often result from a difference in genetic makeup and can affect growth, development, and health. Our team provides comprehensive services to diagnose, treat, and manage all forms of hereditary disorders and birth defects affecting fetuses, newborns, children, adolescents, and adults. We work with families to identify these conditions as early as possible and provide management and treatment to relieve symptoms. 

Ready for an appointment?
call us at 855-855-6484

Genetic Testing and Counseling Before and After Birth

Identifying genetic disorders at the earliest possible stage is a fundamental part of what we do. Depending on your family history, screening can take place in adults before becoming pregnant, during pregnancy, and in children after birth. Screening is routinely performed on newborns as part of the childbirth process. This allows us to begin treatment as early as possible for any genetic diseases that are detected. Genetic testing is also available for children and adults with suspected genetic conditions.

In addition to testing, our genetic counselors communicate with families to help them achieve a comprehensive understanding of what the test results mean. We also address the social and ethical implications of genetic testing in children.

A Team Approach to Care

A genetic disorder can affect many aspects of a person’s growth, development, and health. Our team approach to care includes medical and surgical experts from many different areas.

  • Depending on your or your child’s needs, you may receive care from our pediatric geneticists, pediatric neurologists, cardiologists, pulmonologists, gastroenterologists, endocrinologists, surgeons, and other specialists who understand the complexities of genetic diseases and can provide care at the right time.
  • Our team also includes highly skilled nurses, nurse practitioners, physician assistants, dietitians, psychologists, physical and occupational therapists, speech therapists, social workers, and child life specialists.
  • Because genetic diseases require extensive follow-up, we build a strong relationship with doctors in your hometown to ensure that you or your child receive the best care close to home.

Nationally Recognized for Our Research and Treatment

Our medical geneticists are nationally renowned for our research and treatment of genetic diseases that affect metabolism, growth, and physical and intellectual development. In fact, the only FDA-approved treatment for Pompe disease -- enzyme replacement therapy -- was developed by genetic specialists at Duke. Our team of specialists has helped children with Pompe disease from around the world live longer and enjoy a better quality of life.

We continue to research new ways to diagnose and treat genetic disorders. It is our hope that new discoveries arising from this research will improve diagnosis, treatment, and counseling for individuals with genetic disorders and their family members.

Ready for an appointment?
call us at 855-855-6484