Applied Genetics at Columbia Ophthalmology is an innovative new program in the department of ophthalmology at Columbia University Irving Medical Center. We use an inter-disciplinary approach to evaluate ophthalmic disorders of genetic origin. Our approach is highly personalized, and multiple specialists review each case to determine the most appropriate plan for care. Our physicians are involved in research and this enables us to recommend patients for clinical trials and research studies within CUIMC and also nationally and internationally. Our goal is to be a resource for physicians who do not have expertise in genetics, but who do want their patients to be evaluated on a genetic basis.
As a result of the COVID-19 pandemic, guidelines for telemedicine have been expanded. Out of our concern for your safety, and the safety of our providers and staff, we are now offering video visits on a case by case basis.
- History: In the past, genetic testing of ophthalmic conditions was only offered by a few ophthalmologists at CUIMC. Applied Genetics is a way of centralizing the genetic testing service for the department of ophthalmology in order 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 the development of 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 CUIMC has led to the development of many clinical trials. It is our 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.
- How it works: Any physician or patient can email ophthalmology medical records and the results of any previous genetic testing to firstname.lastname@example.org 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/or 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.
- Role of Research: Each patient 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 are able to 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.
- Members of Patient Review Group:
- Program Leadership:
- Irene H. Maumenee, MD Program Director
- Tara Conniff, Program Manager
- Are you a physician or patient who wants to request an appointment with Applied Genetics?
- Please email the patient's ophthalmology medical records and the results of any previous genetic testing to email@example.com
- Please email any questions to firstname.lastname@example.org