Enlarged lymph nodes are a symptom of the rare condition, Castleman disease, but swollen lymph nodes are also a symptom of many other conditions. And that’s one reason it’s difficult to diagnose Castleman disease, said Michael Gonzalez, Ph.D. and Director of Basic and Translational Research at University of Pennsylvania’s Perelman School of Medicine. The condition caused by a hyperactive immune system can damage organs or even be fatal.
But thanks to a grant Gonzales received two years ago at the Uplifting Athletes Young Investigator Draft, he’s been painstakingly analyzing lymph node samples using a new technology called spatial transcriptomics. The molecular profiling method allows scientists to measure all the gene activity in a tissue sample and map where the activity is occurring. By using that level of data, researchers can start to pinpoint specific cells that might be unique to the disease they are looking at, Gonzales said.
“If there is a particular gene that is really ramped up in the lymph node, it could be the marker that's going to say ‘okay, this definitely is Castleman disease to the exclusion of other inflammatory disorders that just show general inflammation of the lymph node,’” he said.
After a year’s worth of analyzing, he might have found the biomarker he’s been searching for.
“This study has allowed us to study Castleman disease lymph nodes at a resolution that hasn’t been possible before and has pinpointed a specific immune cell that could be involved in disease progression and severity,” Gonzales said.
The next step, he says, is validating his findings and translating them to helping patients.
Uplifting Athletes launched the research grant program six years ago and, with this year’s awards, has now given out more than $1 million in funds. With help from college and pro athletes, Uplifting Athletes holds event that raise awareness and funds for the cause. An estimated 7,000 rare diseases have been identified and few have approved, effective treatments. The nonprofit hands out the research grants in grand style every year – at Lincoln Financial Field, home of the Philadelphia Eagles.
“Being able to go down to the Linc, take a tour and then go through the process of stepping up on stage in front of all those people, it was a super special moment and just a really good reminder to me that this work really matters to a whole lot of people,” Gonzalez said.
Learn more about the Uplifting Athletes Young Investigator Draft.
