Program Description

Applied Genetics is a way of centralizing the genetic testing service to make it easy for any ophthalmologist to refer a patient for genetic testing. Over the years, our experts have watched as new sequencing technologies have become available and have even participated in developing these technologies. Our physicians have used genetic testing to form connections between genetic mutations and clinical presentations of disease. The collaboration between physicians and researchers at the Columbia University Irving Medical Center has led to the development of many clinical trials. We hope that Applied Genetics will facilitate the progression of research in the field of ophthalmic genetic conditions, which will lead to the development of new treatments for these conditions.

Any physician or patient can email ophthalmology medical records and the results of any previous genetic testing to appliedgenetics_oph@cumc.columbia.edu to request an appointment with Applied Genetics at Columbia Ophthalmology. Our patient review group meets monthly to review each referral and determine whether genetic testing and an ophthalmic consultation is required. The patient review group consists of ophthalmologists, geneticists, and scientists who decide if the disorder has genetic involvement, which ophthalmologist should see the patient, and which type of genetic testing is needed to arrive at a diagnosis.

Patients may be offered the opportunity to participate in research at CUIMC. These research studies enable us to study the genetic basis of certain ophthalmic disorders. By building a database of our patients, we can form connections between genes and symptoms. This will enable us to develop new genetically based treatments for ophthalmic diseases. We will also recommend a patient for any available treatment, clinical trial, or research study (both inside and outside of CUIMC) for which they meet the eligibility criteria.

Patient Review Group 

• Jack Cioffi, MD
• Jeffrey Liebmann, MD
• Irene H. Maumenee, MD
• Stephen H. Tsang, MD, PhD
• Lisa Park, MD
• Aliaa H. Abdelhakim, MD, PhD
• Megan Soucy, MS, Certified Genetic Counselor (CGC)

Program Leadership

• Aliaa H. Abdelhakim, MD, PhD 
• Irene H. Maumenee, MD