Eleanor Scimone, the new Clinical Research Assistant, at the Massachusetts General Hospital Myhre Clinic in Boston, talks to us about her new role and her love for medicine.

Originally from Salem, Massachusetts, Eleanor, 22, graduated in May from Elon University in North Carolina with a biochemistry major and a neuroscience minor. If that wasn’t enough volunteering, peer tutoring, undergraduate research projects relating to medicinal chemistry, psychophysiology, neuroscience, and psychology, also kept Eleanor very busy.

Medical school is on the horizon in the next year or two, with a view to become a pediatric neurologist. Although Dr Angela Lin, Co-Director of the MGH Myhre Syndrome Clinic might have already given her pause for thought! “I have been highly considering following in Dr. Lin's footsteps and switching my interest to genetics as the passion for the Myhre community is contagious, it has truly touched my heart. This entire position has been so eye-opening and is truly fascinating.”

Eleanor explained that genetics is particularly interesting to her because of the intricacies. “Molecularly, it is amazing that the addition or subtraction of one very small atom (which can result in a different amino acid within a DNA sequence) can impact so much throughout the entire body and can impact the daily lives of some people with genetic conditions in such a big way.”

Dr Lin is delighted to have Eleanor onboard. “Eleanor’s background in biochemistry and lab research, along with her passion for clinical research made her the perfect fit. Eleanor will be working on Myhre patient data, moving it to a new database to give us greater ways of reporting as well as assisting in clinic and with the creation of new library materials. Eleanor has a particular interest in studying the brain and spinal imaging, so will lead a research project in this area. Since starting Eleanor has really jumped into this position, engaging in every opportunity, and when meeting a few recent patients, she showed natural ability to connect.”

The first Myhre Syndrome Foundation virtual conference in July was a timely introduction for Eleanor who had only joined the MGH team two weeks before the event. “In such a short time, I have already learned so much. While I will never know what it is like to live with Myhre Syndrome, I am learning about how it impacts both the families and the individuals that are affected by the condition. For me, the most valuable aspect is that I am learning how I can be the best physician possible, I am constantly learning through all the patient interactions with the Myhre families. Additionally, I too want answers to the endless questions that pertain to Myhre Syndrome. So, I hope that by working on different projects, data entry, and patient interaction that I can learn some of the answers to the various questions that come with a diagnosis of Myhre Syndrome.”

As for the future Eleanor is looking ahead to medical school but the Myhre community has already made a big impact. “In five years from now I hope to be in medical school but still want be involved with Myhre Syndrome in some way. Thanks to the entire Myhre community for being so welcoming, it is truly an honor to work with you all and I feel so lucky.”