NephCure is proud to honor Dr. Matthew Sampson as our 2021 Boston Countdown to a Cure Medical Honoree, recognizing his outstanding contributions to nephrology and the NephCure community. Dr. Sampson is a Pediatric Nephrologist at Boston Children’s Hospital and holds the Warren E. Grupe Endowed Chair in Nephrology. He is also an Associate Professor of Pediatrics at Harvard Medical School, and an Associate Member of the Broad Institute, where he’s involved in the Kidney Disease Initiative. Learn more about Dr. Sampson’s research on the Sampson Lab website. The second annual Boston Countdown to a Cure will be held on Saturday, September 18th, 2021 — click here for event tickets.
Why did you choose to study nephrology, and specifically rare kidney diseases?
Dr. Sampson: During my training, I took care of a lot of children with kidney disease. I was struck by how little we knew about the underlying causes of these conditions. The treatments we had for them were oftentimes not specific and created as many side effects as they did opportunities to help their condition.
It was this combination of many children being quite sick and not exactly knowing why they were sick, and then recognizing the current medications that we had for them were insufficient to help treat or cure the disease that really drove me to study these rare kidney conditions, specifically Nephrotic Syndrome.
Can you tell us about some of your more recent work?
Dr. Sampson: My group’s general focus is to map genetic causes and contributors to Nephrotic Syndrome and to understand how these genetic risk factors are contributing to this disease. If we understand how the genes contribute to disease, then we can work with collaborators to develop drugs for these genetic forms of kidney disease.
In addition, classifying patients with the genetic form of this disease can be helpful in explaining to parents and children why they have their condition. Even if we don’t yet have a treatment or cure, we may be able to tell them how the disease can progress for children who have the specific genetic form of the condition, and we may be able to suggest certain treatments or set expectations based on that.
A couple of areas that we’re really focusing on right now are APOL1-associated kidney disease, which is a disease that primarily affects patients of African ancestry. We know that about 60-70% of self-reported Black patients who have FSGS have the APOL1 form of their condition. If we can understand and find mechanisms of APOL1 disease, we can hopefully help create medicines for treatments and cures.
Additionally, we are focusing on finding the genetic contributors to immunosuppressive sensitive Nephrotic Syndrome [i.e., Steroid Sensitive Nephrotic Syndrome (SSNS)]. I think a lot of times doctors think that if patients are immunosuppressive sensitive, meaning they respond to medication, then they are fine, but what they don’t recognize is how poisonous some of these medications are and how desperately families are seeking treatments that don’t come with all the side effects.
What work of yours are you most proud of?
Dr. Sampson: I think what I’m most proud of is that over the past decade, since I established my lab in Michigan, our group has been comprised of hardworking, motivated individuals who’ve collectively gone after the genomics of Nephrotic Syndrome. We’ve created a group of researchers who can contribute meaningfully to these efforts, deliver results or ideas when called upon, and lead efforts together in a collaborative, collegiate way.
Why is the genetic side of kidney disease so important to study and learn more about?
Dr. Sampson: Genetic forms of this condition, whether they’re a cause or contributor, really represent a root cause and let us know what makes this disease start or relapse. In doing that, genetic mapping can point us toward specific molecular classifications of disease, which allows us to be more precise in our care of patients.
Secondly, by figuring out the genetic causes, it can point us toward specific treatments. Rather than treating the symptoms themselves, we can try to cut the disease off at its origin.
What does it mean to you to be named this year’s Boston Countdown to a Cure Medical Honoree?
Dr. Sampson: It really means the world to me to be recognized and honored by an organization that has been so meaningful to me since the beginning of my career. NephCure has been instrumental in supporting my efforts through grants and kind words.
I found NephCure during my fellowship, and they’ve been supporting me with a lot of energy and enthusiasm throughout my career. They’ve also helped to really connect me with patients. Being involved with NephCure through patient days, patient presentations, and meeting families at other NephCure-sponsored events, it’s clear to see who we’re fighting for here and why I’m going to work every day. It’s a wonderful group to be associated with, and to be honored this year for a contribution that we’re making as a team feels amazing.
What has it been like to work with NephCure over the years?
Dr. Sampson: It’s great to have a patient advocacy group that is so focused on these rare diseases. There are not many people or organizations in this world that are speaking and specifically advocating for patients with Nephrotic Syndrome in such a professional way. As much as I would like to do that, I have so much work to do in terms of research, papers, grants, and managing my team that I don’t have the opportunity. To know there’s a highly competent group of professionals and volunteers that are coming together on this front is incredibly special and important.