IDefine Blog
IDefine News  - July 16, 2023
Matt Lockwood - AUTHOR

Meet Disease Concept Model Leader Kristen Connors

In last month’s newsletter, Chief Scientific Officer Eric Scheeff wrote about disease concept models (DCM) and why IDefine is sponsoring a project at Boston University and Boston Children’s Hospital to create a DCM for Kleefstra Syndrome (KS).

This month, we are introducing you to Kristen Connors, a Boston University masters student in genetic counseling, who will be leading the DCM effort.

Kristen grew up with a strong interest in healthcare and a curiosity about biology. As an undergraduate student at James Madison University, she studied biomedical illustration.

Then, human genetics and genomics began to catch her eye as a discipline that was cultivating precision medicine.

“My mom had died of cancer when I was young, and as I learned about the advances being made in cancer genetics, I knew that I wanted to be able to share what the scientific community knows with the public, but even more so, listen to patients describe what they want and need,” said Kristen. “There are so many fascinating conversations growing around the future of genetic/genomic medicine.”

After learning about genetic counseling as a career, she became enamored by it as a profession that looked at this future of medicine, but centralized a patient and their community’s experience and values.

While doing her undergrad, she began volunteering with Samaritans, a suicide and crisis call line, to gain counseling experience. After graduation, she went to Spain and earned a master’s degree in Bilingual and Multicultural Education.

“I felt strongly about the impact that multilingualism and cultural competency can have in dismantling barriers to compassionate care, and wanted more training in being an educator to become a stronger advocate and care provider. Shortly after, I applied to genetic counseling programs and was accepted to Boston University.”

After IDefine contacted Boston Children’s Hospital about creating a disease concept model, BCH reached out to Boston University to see if one of its genetic counseling students could lead the project.

Kristen has now submitted the necessary paperwork to her university’s institutional review board (IRB) that approves research studies. Contingent on IRB approval, she hopes to begin recruiting families and conducting interviews this fall.

“Working with people with neurodevelopmental differences is a passion that I hold very close to my heart. I have seen the impact that resources, supports, and interventions can have on the lives of loved ones with NDDs, but I have also seen how difficult it can be for individuals and families to get the care that they need. I am so excited by this project, because I really believe in the strength of the collective voice it will make.”

Kristen is also going to be volunteering as a patient outreach coordinator with IDefine for her Leadership and Education in Neurodevelopmental and related Disabilities (LEND) fellowship, which is also through BCH. In this role she will connect with families enrolled in the Worldwide Map, work with genetic testing companies to provide them information about KS, and serve as a first point of contact with newly diagnosed families.