The Translational Medicine and Human Genetics program provides a thorough evaluation including medical and family history, a physical examination, and laboratory studies to determine if you have a biochemical or metabolic disease. Genetic testing can also be coordinated. Learn more.
Our Comprehensive Ciliopathy Center includes a team of clinical genetics doctors, genetic counselors and expert specialty care doctors with experience and interest in diagnosing and managing patients with ciliopathy conditions.
Familial lipid disorders may be caused by genetic factors. They are cholesterol-related conditions that can cause damage to your heart. The Translational Medicine and Human Genetics program at Penn provides a diagnosis and how to treat the condition.
Penn Medicine’s General Genetics Clinic evaluates, diagnoses, and manages patients with suspected or known genetic conditions. These may include syndromic conditions, chromosomal disorders, and single gene disorders.
Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is an inherited disorder characterized by malformations of various blood vessels. The Translational Medicine and Human Genetics program specializes in evaluating this condition.
The Translational Medicine and Human Genetics program provides an accurate diagnosis of the various types of lipodystrophy and comprehensive care for this rare disease.
Our specialists at the Translational Medicine and Human Genetics program are experts in Lysosomal storage disorders, a group of inherited genetic diseases that result from an enzyme deficiency, which result in a build-up of the substances enzymes would normally eliminate.
Marfan syndrome is a hereditary disorder that affects the body's connective tissue. At the Translational Medicine and Human Genetics program, we are dedicated to the comprehensive evaluation and management of older children and adults with a known or suspected diagnoses of Marfan syndrome.
The Translational Medicine and Human Genetics has been designated a Neurofibromatosis Clinic Network Affiliate Clinic by the Children's Tumor Foundation. Patients of all ages and with all types of neurofibromatoses receive comprehensive health care.
The Translational Medicine and Human Genetics program offers many other genetic services including prenatal screening, counseling and risk evaluation. Learn more about how we can help you or your loved one receive an accurate diagnosis and proper treatment.
Pharmacogenetic testing allows patients insight into how genetic variants impact a person’s response to drugs.
Tuberous sclerosis complex is a highly variable genetic disorder that affects several systems of the body. Tuberous sclerosis complex causes characteristic skin lesions and growths in the brain, kidneys, heart and other organs. Learn about tuberous sclerosis complex and how our physicians help patients with this disorder.
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome. At the Translational Medicine and Human Genetics program, we provide coordinated multidisciplinary care including diagnosis, medical management, genetic counseling, genetic testing, education and support.