Hear from some local researchers about what they do and why they care about rare disease research.

Dr. Jeff MacKeigan

Dr. Jeff MacKeigan (MSU)

What is your current area of rare disease research?
We study a rare disease called tuberous sclerosis complex (TSC). TSC causes tumors to form in several major organs including the heart, brain, lungs, kidneys, and skin. These tumors, especially the brain tumors, can have serious clinical implications such as infantile spasms, epilepsy, autism, and cognitive delays. TSC is estimated to afflict 50,000 individuals in the U.S.

Why are you studying rare diseases? What got you interested in this field?
During my postdoctoral training at Harvard, I studied under John Blenis, an expert cell biologist with extensive knowledge in the PI3K/mTOR pathway. I came to learn about TSC during this time, because the disease is caused by mutations in two tumor suppressor genes, TSC1 and TSC2, which reside within the mTOR pathway. What really drove me to study TSC, however, was my interactions with TSC patients and their family members. Seeing the pediatric patients suffer from debilitating seizures, and the impact this has on their parents and siblings – this really motivates me to uncover the biological complexities of the disease. Further, the broad spectrum of symptoms and disease is quite remarkable. Some patients have no symptoms and may live most of their lives undiagnosed; while more severely affected patients can suffer from numerous seizures each day. Ultimately, we hope that our research in the lab will contribute to new, future therapies for TSC patients.

What do you wish people knew or understood about rare disease research?
Rare disease research faces many challenges. In the current research climate, scientists face stiff competition for research dollars in all areas of biomedical research; but for rare diseases, there is even less funding available. For many rare diseases, like TSC, there is no cure and more research is desperately needed. Awareness, understanding, and support are essential for rare disease patients and future research.

What have you learned from the rare disease community?
The TSC community, and broader rare disease community, has amazed me over the past several years through their support of each other, commitment to research, and optimism for improved therapies. These patients and their families have inspired me to never, ever, give up!

Learn more about Dr. MacKeigan’s research here.

Dr. Paul Mark

Dr. Paul Mark (Spectrum Health)

What is your current area of rare disease research?
Potential metabolic causes of congenital birth defects as well as genetic causes of rare diseases.

Why are you studying rare diseases? What got you interested in this field?
I have always been interested in how humans develop from a single cell into a human being. I began my career as an OB/GYN where I was able to learn some about fetal development, but I realized I wanted to study the genetic mechanisms of development, so went back for training in medical genetics. I have now been practicing medical genetics for eight years here in Grand Rapids.

What do you wish people knew or understood about rare disease research?
It is extremely complex, takes funding which can be hard to acquire, and can take a lot of time. It is an underserved area in the medical community.

What have you learned from the rare disease community?
Patients and their families are tremendously resilient and want any answers they can receive. They are incredibly willing to participate in research in any way they can so that even if they can’t find answers or treatment for their loved ones, perhaps they can help someone else in the future.

See more of Dr. Mark’s research and publications here.

Dr. Charles Ide

Dr. Charles Ide (WMU)

What is your current area of rare disease research?
Cell and Molecular Basis of Neurodegeneration in Multiple System Atrophy.

Why are you studying rare diseases? What got you interested in this field?
I want my lab to include projects that will ultimately help people who have limited medical alternatives.

I was recruited into studying MSA after an article about my lab’s genomics methods-based research appeared in the Wall Street Journal. A man, whose wife was an MSA patient, and her neurologist convinced me to apply those methods to samples from MSA patients.

What do you wish people knew or understood about rare disease research?
Rare diseases like MSA have both genetic and environmental underpinnings. A person may carry a genetic variant that causes a rare disease, but might not come down with the illness if environmental triggers are avoided. For example, many genetic variants for neurodegenerative diseases, but might not come down with the problem if exposure to pesticides and/or industrial chemicals can be avoided.

What have you learned from the rare disease community?
Over the years, I have met many incredible MSA patients and their caregivers who are absolutely dedicated to helping other patients understand how to deal with the heartbreaking problems associated with MSA. These selfless individuals have also spent much time raising MSA awareness across the country to help influence government agencies and foundations to support research aimed at helping find a cure for MSA.

Dr. Maggie Caulfield

Dr. Maggie Caulfield (Calvin University)

What is your area of research?
My projects focus on deciphering the molecular mechanisms and consequences of the interactions between resident cells of the central nervous system (CNS) and immune system in the context of CNS autoimmune disease. The goal of this research is to add to the understanding of these interactions and shed light on common pathogenic mechanisms across CNS disease or injury. This includes a larger goal to aid in the development of new therapeutics or utilization of current therapeutics in novel contexts. These projects are being carried out in collaboration with mentors from Northwestern University and the Mayo Clinic.

One area of particular focus has been the disease multiple sclerosis which affects about 2.5 million people worldwide. Multiple sclerosis is a chronic disease of the brain and spinal cord which may be progressive, relapsing and remitting, or stable. The pathology of MS consists of lesions that form randomly throughout the brain and spinal cord. In these areas, the myelin sheath surrounding nerves is damaged by the immune system, which prevents proper transmission of nervous system signals and thus result in a variety of neurological symptoms. Symptoms often include visual difficulties as well as speech impairment, numbness, motor disturbances, and bladder and bowel dysfunction. Another related disease of interest with similar clinical outcomes, albeit more severe, is neuromyelitis optica (NMO). This debilitating and progressive disease falls loosely within the “rare disease” category with the prevalence of approximately 1-5 per 100,000 individuals worldwide.

How is a neglected disease different than a rare disease? How is it the same?
Neglected diseases are diseases for which there are very little resources spent on specific research and therapeutics to better the outcomes of the patient population. A rare disease is one in which a small percentage of people are affected by that specific disease. I think that a rare disease can also be, and likely is also a neglected disease, though not all neglected diseases are rare.

What got you interested in the research?
A few particular events in my life served as the impetus for my research career. First, when I was I high school my mom was diagnosed with multiple sclerosis and this initiated an interest to better understand the disease mechanisms. Secondly, an undergraduate summer research fellowship at the University of Notre Dame provided me with the opportunity to experience laboratory work and translation research, which I loved. Finally, studying neuroimmunology in graduate school solidified my robust interest in the topic and I have maintained that focus ever since.