Elaine M. Pereira, MD

As a clinical geneticist, I help children and adults uncover a genetic cause for their symptoms. With information from genetic testing, I can help my patients understand a diagnosis, provide important information to the rest of their medical team, and potentially help other family members with their evaluations. An important lesson about clinical genetics is that a diagnosis affects a whole family. My goal is to work hand in hand with my patients and their family members so that their questions are answered.

Genetic testing and information continuously evolve. If clinical testing does not find the answer we are looking for, I work with my patients and families to learn about research opportunities, and I follow up at regular intervals in case new clinical tests become available. My main areas of interest are the genetic causes of congenital heart disease, congenital hearing loss, hereditary hemorrhagic telangiectasia (HHT), and Marfan syndrome.

My research interests include discovering more about rare genetic disorders, improving patient care, and increasing the quality of that care. Our clinical genetics team is constantly working to make genetic testing available and testing results easier for patients to understand. I am also interested in understanding rarer genetic conditions in greater detail, working with international teams on specific cases to see if more information can be learned from a group of individuals with the same rare genetic finding. I also work with our CHONY residents and fellows improving genetic literacy through regular case conferences and lectures