Rare Disease Day, which takes place on February 28 (Feb. 29 in leap years—the rarest day of all) is intended to raise awareness about diseases that affect fewer than 1 in 1,000 people and collectively impact 300 million people worldwide. Rare diseases are the focus of research for many investigators at the Brigham. In honor of this observance, colleagues shared more about their work and the importance of studying these conditions.

“Cardiac sarcoidosis is a rare condition of the heart that is often missed and discovered only after a serious arrhythmia occurs. Using electrocardiography and advanced cardiac imaging, we are working on ways to identify patients before arrhythmias develop. Once identified, our goal is to reverse or limit disease progression, treat arrhythmias and prevent sudden death using medication, cardiac ablation and implanted cardiac defibrillators. The team at BWH includes heart failure specialists, cardiac imaging specialists and cardiac electrophysiologists. We meet weekly to discuss cases, protocols and clinical research projects.” – William Sauer, MD, section chief, Cardiac Arrhythmia Service, Division of Cardiovascular Medicine

“Every day, through both screening and diagnostics, the Department of Pediatric Newborn Medicine’s Newborn Genomic Medicine Program identifies newborns with rare disorders and initiates appropriate therapies early to improve outcomes. Our supplemental Duchenne Muscular Dystrophy Newborn Screening program, one of only two existing programs in the U.S. that offers screening to new parents, provides the opportunity to start new FDA approved Duchenne therapies early, optimizing outcome and avoid diagnostic odysseys.” – Richard Parad, MD, MPH, director, Newborn Genomic Medicine Program

“I study NUT carcinoma, a rare fusion-protein-driven squamous cancer that affects people of all ages, but mostly those in the adolescent and young adult gap. I have dedicated my life and lab to researching this disease because I had the fortune of describing it originally and would like to finish what I started by helping find a better treatment for this aggressive, incurable cancer.” – Chris French, MD, associate professor, Department of Pathology

“My lab studies chromophobe kidney cancer, a rare subtype that can be deadly if it spreads outside the kidney.  There are no known effective treatments for metastatic chromophobe kidney cancer — this is an urgent, unmet need. Rare diseases are usually understudied and often have little or no research funding, yet rare disease research has been proven, again and again, to catalyze breakthroughs for patients with common diseases. Supporting rare disease research is thus a win-win, for patients and the scientific community. – Elizabeth Henske, MD, director, Center for LAM Research and Clinical Care

Amin Nassar and Talal El Zarif

“Penile squamous cell carcinoma (PeCa) is a rare cancer, particularly in developed countries, with 2,070 estimated new cases and 470 estimated deaths in the United States during 2022. Patients with locally advanced or metastatic PeCa are characterized by dismal clinical outcomes and limited responses to chemotherapy. In a multi-institutional international study, postdoctoral fellow Talal El Zarif and I are spearheading efforts that investigate safety and clinical activity of immunotherapy in this orphan disease.” – Amin Nassar, MD, research investigator, Department of Medicine

Vikram Khurana

“Our lab focused on degenerative movement disorders from the very common like Parkinson’s disease to the rare like multiple system atrophy and ultra-rare like inherited ataxias. Why study rare diseases? The first reason is our duty to our patients – no patient should feel left behind if they are diagnosed with a severe disease just because it is rare. But, beyond this, rare diseases can often lead to innovation in biological understanding and therapeutics development, with  advantages for fast-track regulatory approval of therapeutics, and can sometimes teach us about common diseases. Multiple system atrophy is a rare movement disorder, for example, but the same protein is implicated as in its much more common cousin, Parkinson’s disease.” – Vikram Khurana, MD, PhD, attending physician, Neurology Department