Who is Researching the Link Between Down Syndrome and Leukemia?

When it comes to studying the link between Down syndrome (DS) and leukemia, there is good news and bad news.

Let's get the bad news out of the way. 

There is a known connection between DS and leukemia. DS was discovered in the late nineteenth century, and knowledge of the syndrome has continued growing. However, research on the conditions that tend to accompany DS, like leukemia, has not increased at an acceptable rate. 

The connection between these diagnoses was first noted in 1930. Most recently, experts have estimated that children with DS are 10-20 times more likely than the general population to have certain types of leukemia. Much is still unknown concerning monitoring for and treating patients with these two conditions simultaneously.

Now for the good news.

Research on the connection has drastically increased over the past two decades. Efforts have improved on several fronts to understand what makes the risk of developing leukemia so much higher for patients with DS. Experts have uncovered several findings that have helped explain which patients are most susceptible to leukemia, why they are more susceptible, and what can be done to intervene. While much is still unknown, there is momentum unlike ever before. There are several organizations, groups, and individuals responsible for this. 

Jerome Lejeune Foundation

Jerome Lejeune was a 20th-century physician and researcher passionate about children with intellectual disabilities. In 1958, he and Marthe Gautier discovered an extra copy of chromosome 21 in a patient with DS. This cemented his legacy as the person who revealed that DS was a chromosomal condition. He continued this work and went on to win several awards and prestigious honors. Still, he is recorded lamenting what he felt he was unable to finish near the end of his life.

"I was a physician who should have cured them, and I am leaving them. I have the impression I am abandoning them." 

His work did not die with him, though. The Jerome Lejeune Foundation prioritizes research, care for patients, and advocacy for the population of those with DS. 

I interviewed the foundation's research director, Elise Vivar, and asked her what drew her to this organization. She explained, "The foundation is well-known and renowned. Jerome Lejeune is a good reason to be trying to take the work where he left it and then continue with the goal of supporting research leading to treatment." 

One major way they bolster their mission is by focusing on what they call "cross-pathologies." These are the disease processes that tend to accompany a DS diagnosis, such as Alzheimer's, epilepsy, and cardiopathy. A cross-pathology that the foundation has taken a particular interest in is leukemia.

The first International Symposium on Down Syndrome and Leukemia occurred in Paris, France, on October 6th and 7th of 2022. Leading scientists and researchers met to discuss the state of the field and the goals for the future of the very specific intersection of DS and leukemia. It was a first-of-its-kind event as the experts gathered from across the globe. It culminated in an article discussing the basic mechanisms of developing leukemia on top of DS, clinical advances that have been made, and the key questions that remain in the field. In addition to the article, plans were made for future symposiums, although no dates have yet been set.

The research that the Jerome Lejeune Foundation is funding and advancing through events like this symposium has the potential to impact millions. Beyond developing specific cancer treatments for patients with DS that are both effective and safe, their findings will provide valuable knowledge for all patients who are diagnosed with leukemia. 

"Why are we doing research on leukemia? It is to improve the results of therapy for patients with leukemia and Down syndrome," Vivar said. "And also, in parallel, to improve knowledge of leukemia, particularly in children. The information we will learn by research on the Down syndrome population could also be applied to the general population."

Dr. Karen Rabin

Dr. Karen Rabin was one of the fifteen participants in that first symposium in France. She is a physician-scientist associated with Baylor College of Medicine and Texas Children's Cancer Center in Houston, Texas. Her clinical care and research background are in leukemia and childhood cancer. Early on, her focus narrowed even further to the population of children with both leukemia and DS. 

 "When I started to develop my own research area a long time ago, I was thinking through areas of need within the field of [Acute Lymphocytic Leukemia] (ALL) and the care of children with Down syndrome, as well as the understanding—scientifically— of the disease, the management, and the optimal treatment for it. Both seemed like real areas of need where there wasn't enough attention and focus. There were a lot of unanswered questions," she explained to me. "There's been tremendous progress in the field of ALL over the past few decades. But children with Down syndrome had lagged behind and weren't participating, to the same extent, in those gains."

Dr. Rabin has become a household name when it comes to research on DS and leukemia. A handful of names seem to be attached to most articles, organizations, and events concerning these two diagnoses together. Some of those names include, but are not limited to, John Crispino, Jeffery Taub, Sébastien Malinge, Jun Yang, and our current focus, Karen Rabin. 

The small group of people dedicated to this very specific area of research is involved in numerous ways. Dr. Rabin participated in the Jerome Lejeune Foundation's symposium and the US-based Consortium on Leukemia in Children with Down Syndrome. She has authored numerous articles on the topic and is currently the principal investigator for a clinical trial to revamp the treatment of patients with DS and leukemia using immunotherapy. 

Dr. Rabin has sentiments similar to Vivar's regarding the promise and future of research on patients with DS and leukemia. "You know, it's a unique disease with a lot of unsolved scientific mysteries that are important to solve," Dr. Rabin said. "Both to help these patients and potentially give us insights that help us better treat disease in all patients."