I Want To...
I Want To...
Find Research Faculty
Enter the last name, specialty or keyword for your search below.
School of Medicine
I Want to...
Welcome to Johns Hopkins Clinical Genetics. Our team has expertise in the diagnosis and management of patients with a wide variety of genetic conditions and/or constellation of medical problems. Typically, reasons for referral include:
- Abnormal newborn screening results
- Birth defects
- Chromosome anomalies
- Connective tissue disorders
- Developmental delay/intellectual disability
- Failure to thrive
- Hearing loss
- Inborn errors of metabolism
- Skeletal dysplasias
- Tumor disorders
Schedule an Appointment
In addition to the clinics we offer in the Institute of Genetic Medicine, there are many other genetic services available within the Johns Hopkins University and Kennedy Krieger Institute. Some of these specialty clinics include:
- The Prenatal Diagnosis and Treatment Center offers genetic counseling and testing services for couples with a family history of a genetic condition or individuals who are known carriers of a genetic condition.
- The Clinical Cancer Genetics program offers risk assessment, testing, and long term management for hereditary cancers. These include but are not limited to breast and ovarian cancer (i.e. BRCA1/2-related cancers), colon cancer (i.e. Lynch syndrome), polyposis (i.e. familial adenomatous polyposis), and endocrine tumors (i.e. multiple endocrine neoplasia).
- The Center for Inherited Heart Diseases provides risk assessment, testing, and management for cardiac conditions including but not limited to arrhythmogenic right ventricular dysplasia (ARVD), Brugada syndrome, cardiomyopathy, and long QT syndrome.
- The Parkinson’s Disease and Movement Disorders Center provides diagnosis and management for movement disorders including but not limited to ataxia, dystonia, and Parkinson’s disease.
- The Division of Hematology provides diagnostic testing and treatment for conditions including but not limited to sickle cell disease, thalassemias, coagulation/clotting disorders (i.e. Factor V Leiden), hemochromatosis, and vitamin deficiencies affecting the blood (i.e. MTHFR-related conditions).
- Amyotrophic Lateral Sclerosis (ALS)
- Cystic fibrosis
- Dementia (i.e. Alzheimer’s disease)
- Down Syndrome AKA Trisomy 21
- Fetal alcohol syndrome
- Hereditary hemorrhagic telangiectasia
- Huntington disease
- Klinefelter syndrome
- Multiple sclerosis
- Muscular dystrophy (i.e. Duchenne muscular dystrophy)
- Neurofibromatosis and schwannomatosis
- Rett Syndrome
- Sturge-Weber syndrome