University of Pennsylvania Perelman School of Medicine

Philadelphia, Pennsylvania
F.M. Kirby Professor of Ophthalmology
Department of Ophthalmology
Director, Center for Advanced Retinal and Ocular Therapeutics (CAROT), University of Pennsylvania


Dr. Jean Bennett is a world leader and pioneering physician-scientist in the field of retinal (eye) gene therapy. She developed the first FDA-approved gene therapy for a genetic disease. Leber’s congenital amaurosis (LCA) is a rare genetic disease causing blindness in children. Individuals who carry mutations in the gene, RPE65, have poor vision at birth and develop LCA, and eventually lose their sight. This treatment, known as Luxturna, restored vision in children and adults with RPE65-related LCA and received historic FDA approval in 2017. Animal models for her laboratory experiments included blind dogs with a similar disease as LCA. The LCA gene therapy she developed has paved the way for further advancements in its approach to treat other eye diseases and other genetic diseases. Dr. Bennett’s laboratory also targets other diseases and organs suffering from mutations in cilia proteins, including the ear (cochlea) and the kidney (renal tubular epithelium)

With NFCR support, Dr. Bennett is focusing on Cancer associated retinopathy (CAR), a retinal disease that may occur in patients with various types of cancer. CAR is a rare paraneoplastic syndrome that can lead to permanent vision loss. This condition is caused by circulating anti-tumor antibodies that cross-react with retinal antigens and cause a painless, progressive retinal degeneration. Vision loss secondary to CAR often precedes the diagnosis of cancer, and warrants a systemic workup to identify the primary malignancy. CAR is most commonly associated with small cell lung cancer, and has also been identified in patients with breast, lung, gynecologic, colon, pancreatic and prostate cancer. Similar forms of retinal degeneration are associated with melanoma (melanoma associated retinopathy; MAR).

Dr. Bennett and her collaborator, NFCR-supported scientist, Dr. Katherine Uyhazi, will combine gene therapy technology with cell replacement therapy to restore necessary retinal components that are damaged in CAR and MAR. Significantly, these combined technologies may be applied to other diseases of the eye that would require both gene and cell replacement therapy to restore their vision.


Jean Bennett, Ph.D., M.D., is the F.M. Kirby Professor of Ophthalmology at the Perelman School of Medicine, University of Pennsylvania. She is also the Director, Center for Advanced Retinal and Ocular Therapeutics (CAROT), University of Pennsylvania.

Dr. Bennett graduated with honors with her bachelor of science in biology from Yale University in 1976. In 1980, she obtained a Doctorate of Philosophy in Zoology; Cell And Development Biology from the University of California, Berkeley. Bennett continued on to Harvard University to receive her Doctor of Medicine (M.D.) in 1986.

She has numerous patents for the genetic methods and technologies developed in her laboratory. Jean Bennet’s work has been published over 220 times and she has received many accolades including: the Sanford Lorraine Cross Award, the Antonio Champalimaud Vision Award, the Marian Spencer Fay Award and The Greenberg Prize End Blindness 2020 Award.

Jean Bennett

Areas of Focus

Cancer Types

(Cancer Associated  retinopathy) 
(Melanoma Associated retinopathy) 
Breast cancer
Ovarian cancer
Lung cancer
Cervical cancer
Pancreatic cancer
Prostate Cancer

Years of NFCR Funding

Historical Support Provided

Related Content

Rectal Cancers Vanished After Immunotherapy Treatment

What is Genomic Sequencing, and Who Can Benefit?

Genetic Testing: Learning More About Your Cancer Risk

Genetic testing can be an important tool in helping patients learn about their inherited cancer risk, but the results are not always as clear as patients might expect. Just as traits such as hair color and eye color can be passed down from parents to their children, so too can the risk for developing certain types of cancer. Scientists know that certain inherited gene mutations — small changes in a person’s DNA — can increase a person’s risk for developing diseases such as breast cancer, ovarian cancer, and colon cancer. Genetic testing examines a person’s DNA to determine if such mutations are present, helping patients better understand their cancer risk and, in some cases, allowing them to take charge of their health before receiving a devastating diagnosis. Understanding the Basics of Genetic Testing Only five to 10 percent of all cancers are believed to be tied to an inherited gene mutation.1 Genetic testing can help determine whether an individual has inherited a specific gene mutation (or mutations) that put him or her at higher risk for developing certain cancers. Most genetic tests require a small blood sample from the patient, but some tests can be performed using urine, saliva, or a cheek swab. The sample is sent to a special laboratory and results are usually provided to the patient’s doctor or genetic counselor within several weeks.2 Genetic testing can return one or a combination of the following results: Positive: The laboratory identified a genetic mutation that is associated with an inherited cancer risk.2 Negative: The laboratory did not find the specific genetic mutation (or mutations) that the test was designed to detect.2 Inconclusive: The laboratory was not able to determine whether a specific genetic mutation (or mutations) was present in the sample provided.2 Variance of Uncertain Significance: The laboratory identified a genetic mutation that has not been previously associated with cancer.2 No test can provide exact answers about a person’s inherited cancer risk. Genetic testing can tell you whether a specific genetic mutation is present in your DNA, but it cannot tell you for certain that you will develop the disease associated with that mutation later in life.3 Knowing Your Cancer Risk: Is Genetic Testing Right for You? Doctors often only recommend genetic testing for patients whose families have a history of certain cancers or patterns of cancer. According to the American Cancer Society, people who meet the following criteria might consider genetic testing: Cancer diagnoses in multiple first-degree relatives, including parents, siblings, or children1 Numerous relatives on one side of the family who have been diagnosed with the same cancer1 Family history of cancers linked to a single gene mutation, such as breast cancer, ovarian cancer, or pancreatic cancer1 Family member(s) who has been diagnosed with more than one type of cancer1 Family member(s) who has been diagnosed with cancer at a younger age than typically seen for that cancer, such as colon cancer1 Close relatives who have been diagnosed with cancers linked to rare hereditary cancer syndromes, such as Hereditary Breast & Ovarian Cancer Syndrome (HBOC), Cowden Syndrome, or Lynch Syndrome1 Family member(s) who has been diagnosed with […]