Cell biol­o­gist Jeanne Lawrence’s rev­o­lu­tionary recent dis­covery of a gene that effec­tively turns off the chro­mo­some respon­sible for Down syn­drome set the sci­en­tific world abuzz. On Monday night at North­eastern, she described how her finding was just as sur­prising as her journey to becoming a scientist.

The day Lawrence accepted her first research job, she cried. The human genetics coun­selor had received a fel­low­ship to train in sci­ence but she didn’t want to be a sci­en­tist. She wanted to work with people and make a dif­fer­ence, she told Pres­i­dent Joseph E. Aoun, who hosted the sev­enth install­ment of the Pro­files in Inno­va­tion Pres­i­den­tial Speakers Series in the Raytheon Amphitheater.

But after a few months of staring through the micro­scope, some­thing hap­pened: “I fell in love with chro­mo­somes,” said Lawrence, whose deep interest in this work inspired her to earn a doc­torate in devel­op­mental biology from Brown Uni­ver­sity. Better yet, she didn’t have to give up on her dream of helping people. In 2007, Lawrence, now pro­fessor and chair in the Depart­ment of Cell and Devel­op­mental Biology at the Uni­ver­sity of Mass­a­chu­setts Med­ical School, received a Eureka grant from the National Insti­tutes of Health to study Down syn­drome, which she described as one of the least funded dis­or­ders in the world.

Launched in 2011, the Pro­files in Inno­va­tion Pres­i­den­tial Speaker Series was designed to bring the world’s most cre­ative minds to campus for con­ver­sa­tions on inno­va­tion and entre­pre­neur­ship. In keeping with that focus, Aoun described Lawrence as an inno­vator and cred­ited her deter­mi­na­tion to tackle this research despite its many risks. “You were a taking a high risk, high reward, and high failure pos­si­bility, but you kept going,” he said.

Pres­i­dent Joseph E. Aoun hosted biol­o­gist Jeanne Lawrence at the sev­enth install­ment of the Pro­files in Inno­va­tion Speaker Series on Monday evening. Photo by Brooks Canaday.

Affecting 400,000 people in the U.S. and 6 mil­lion people world­wide, the disorder—which is caused by an extra copy of chro­mo­some 21—is a leading cause of cog­ni­tive and phys­ical impair­ment and has been asso­ci­ated with early onset Alzheimer’s dis­ease, con­ges­tive heart failure, and leukemia.

But Down syn­drome research is nowhere near com­mon­place, and Lawrence sus­pects one reason for that is the mindset among the research com­mu­nity. Since it’s a chro­mo­somal abnor­mality, she explained, researchers thought it must be com­pletely intractable. But years of working with the chro­mo­somes that deter­mine sex had given Lawrence a dif­ferent idea.

Every female has an extra X chro­mo­some, she explained, which means that a nat­ural mech­a­nism for silencing extra chro­mo­somes already exists. She won­dered if that mech­a­nism could be gen­er­al­iz­able to chro­mo­some 21. “There are a number of rea­sons why this won’t work,” she said. “But no one of them was an absolute.”

The gene respon­sible for silencing the X chro­mo­some, called XIST, is extremely large. No one had ever trans­planted such a big sequence into the genome, she said. And even if she could get it from the X chro­mo­some to chro­mo­some 21, there was no guar­antee it would behave the same way in its new home.

But Lawrence’s high-​​risk project paid off with high reward: In July of this year her team pub­lished the first study to suc­cess­fully silence the extra copy of chro­mo­some 21 using XIST.

A packed audi­ence in Raytheon Amphithe­ater joined Pres­i­dent Joseph E. Aoun for a con­ver­sa­tion with biol­o­gist Jeanne Lawrence on Monday. Photo by Brooks Canaday.

Her work could lead to much greater under­standing of Down syndrome’s symp­toms and treat­ment methods, but Lawrence was quick to point out that she does not have a cure. “I don’t envi­sion that that’s going to be pos­sible,” she said. “What we’re thinking about is that list of con­di­tions and med­ical chal­lenges that affect an indi­vidual with Down syndrome.”

While that prospect of helping people com­pelled Lawrence’s journey, it began with a love for the sci­ence. “If you love doing what you’re doing, that’s a really big reason to do it,” she said. “The process of working on it is your reward.”

Fol­lowing Lawrence’s talk, she fielded ques­tions from the audi­ence mem­bers and via social media on topics ranging from how silencing chro­mo­some 21 would affect cog­ni­tion in people with Down syn­drome to how to pre­pare for failure in high-​​risk research. One audi­ence member shared that her sister has Down syn­drome and while she is hopeful about the pos­i­tive health impacts a poten­tial chro­mo­somal therapy could have, she “raises an eye­brow” at the prospect of turning off Down syn­drome entirely. In response, Lawrence reit­er­ated that the find­ings would not lead to treat­ments that could change an individual’s fun­da­mental nature.