Rare diseases are under-researched, and rare disease patients face many challenges from diagnosis to treatment. Diagnosis is long mainly due to the lack of awareness in patients and (bio)medical professionals. Because rare diseases, per definition, affect fewer individuals than common conditions, companies tend to focus on discovering cures for the latter as the profit is higher than for diseases affecting a small population. When discoveries are made for rare conditions, other challenges arise, such as not having enough patients to have significant clinical trial results or costly treatments. Rare disease patients face challenges in their day-to-day lives, and these challenges are even amplified for Black, Indigenous, and People of Color (BIPOC) patients. Indeed, unconscious bias, first described by Dr. Mahzarin Banaji and Dr. Anthony Greenwald, is found in every aspect of our lives, including healthcare. Thus, (bio)medical professionals may treat patients coming from minorities differently without even noticing it, which can have a major impact on the diagnosis and treatment of these patients. I witnessed this bias in treating patients and their families when my immigrant father-in-law was in a coma, and my mother-in-law would receive fewer updates on his health status than other families, likely due to her accent. Educating about this bias is critical so that professionals can change their behavior towards BIPOC patients and provide no difference in care, no matter the background of their patients. BIPOC patients are also less prone to participating in clinical trials due to a mistrust of medical professionals. Looking back at history, this mistrust is legitimate and understandable. Increasing diversity in clinical trials is necessary to ensure that treatments are effective for all patients and not a subset of patients. Thus, (bio)medical professionals must increase awareness of how beneficial participating in clinical trials can be and create genuine connections with patients by communicating openly.


As a biomedical researcher, I do not often get the opportunity to interact with patients. I am currently a first-year PhD student in Dr. Samantha Lewis's lab at the University of California, Berkeley. The Lewis Lab focuses on mitochondrial research. Mitochondria are amazing structures found in our cells that have various functions. They carry genetic material, and defects in mitochondrial DNA lead to mitochondrial diseases. Hundreds of mitochondrial diseases have been reported, and they vary in prevalence and symptoms. Depending on the defect and how much of that defect a patient has, manifestations can vary, making it challenging to diagnose a mitochondrial disease. Additionally, treatment for these diseases consists of managing symptoms as there is no cure. Increasing our understanding of how mitochondria are in healthy individuals is critical to understanding what is going wrong in mitochondrial diseases. As a biomedical researcher, it is essential for me to ensure that the discoveries I make benefit all individuals. To further improve as a scientist and person, it is important that I understand what patients are going through and what I can do to eliminate health disparities.


The Rare Disease Diversity Coalition's (RDDC) mission aligns with this goal, and the RDDC Fellowship is an opportunity for me to contribute to increasing health equity and further educate myself on health disparities. I am excited to participate in the diverse working groups meetings and understand how health inequity can be targeted from different angles. I am also particularly interested in learning more about how to increase diversity in clinical trials and the current state of rare diseases clinical trials in terms of patient' composition. 


My professional goal is to become a professor and to have a lab focusing on (epi)genetics. As part of this journey, I will mentor students, and I plan to educate them and other biomedical professionals on how to eliminate health disparities. This fellowship is a great first step towards that goal.


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