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Updated: Aug 6

NEHI is proud to honor Dr. Sonia Vallabh and Dr. Eric Minikel, scientists at The Broad Institute, on September 25th at NEHI’s 2019 Innovators in Health Awards.

NEHI will recognize Dr. Vallabh and Dr. Minikel for their courage and initiative in pursuing a cure for genetic prion diseases as a result of a personal connection to this extremely rare disease.

In 2010, Sonia Vallabh watched her 52 year old mother die of a rapid, mysterious, undiagnosed neurodegenerative disease. One year later, Sonia learned that her mother's disease had been genetic prion disease, and that she herself had inherited the causal mutation, making it very likely she would suffer the same fate in 20 years' time. There was no prevention, treatment, or cure available. Despite having no prior training in biology, Sonia and her husband Eric Minikel set out to re-train themselves as scientists and devote their lives to searching for a treatment or cure for her disease. They quit their jobs in consulting, started a scientific blog, began taking night classes and attending conferences, found new jobs in research labs, and eventually earned PhDs in biomedical research at Harvard. They are now scientists at the Broad Institute of MIT and Harvard, where their research focuses on biomarker development and preclinical therapeutic testing, all oriented around the goal of primary prevention of prion disease.

An inspiring example of patient-driven biopharmaceutical innovation, Dr. Vallabh and Dr. Minikel’s work will profoundly impact this underserved patient population.

As a 2019 Innovator in Health, we asked Sonia and Eric a few questions about innovations in health:

NEHI: During your career, where have you seen or experienced the greatest or most memorable impact of innovation on health and/or health care?

SV & EM: [We] have two answers. One is predictive genetic testing. That's what transformed our lives and made us the scientists we are today. It gives us our best opportunity to identify people at high risk for severe diseases before anything goes wrong, and thus creates an opportunity for prevention — early intervention to preserve full quality of life. The technology we use for clinical genetic testing today is often the same technology people used 25 years ago, but for a long time people have been told not to bother because "there's nothing you can do." Now attitudes are finally changing, gradually, and uptake and interest in testing are starting to increase. [Our] second answer is antisense oligonucleotides. Again, the principle here has been around for 30 years, but in order for it to really lead to transformative new drugs took years and years of iterative improvements in chemistry, delivery, and dosing. [We] think we are now finally in an era where antisense is poised to deliver powerfully disease-modifying drugs for a whole series of currently untreatable diseases.

NEHI: What do you hope for the future of health care innovations?

SV & EM: [We] hope that we will see a mainstreaming of clinical development paths for preventive drugs. What the genomic revolution has given us so far are the ability to identify at-risk patients and to develop targeted therapies – both themes [we] touched on above. The missing link is we need ways to develop drugs that are targeted at prevention in high-risk populations, without requiring that those same drugs have to also be effective at the symptomatic stage of disease, when different mechanisms may be at play — some patients may be too advanced, and the same drugs may no longer have the same effect. Developing disease-modifying preventive drugs, as opposed to symptom-modifying drugs, changes the mandate at many different stages of research — it changes what we need in terms of drug mechanism of action, biomarkers, natural history studies, and genetic risk estimation, it changes the kinds of things that researchers, funding agencies, regulators, and payers need to think about. We are only starting to grapple with all these changes now, and [we] hope that in 10 years we will view this as much more mainstream.

Updated: Aug 7

Sonia Vallabh, PhD and Eric Minikel, PhD

Associated Scientists, Prions@Broad

Broad Institute of MIT and Harvard

In 2010, Sonia Vallabh watched her 52 year old mother die of a rapid, mysterious, undiagnosed neurodegenerative disease. One year later, Sonia learned that her mother's disease had been genetic prion disease, and that she herself had inherited the causal mutation, making it very likely she would suffer the same fate in 20 years' time. There was no prevention, treatment, or cure available. Despite having no prior training in biology, Sonia and her husband Eric Minikel set out to re-train themselves as scientists and devote their lives to searching for a treatment or cure for her disease. They quit their jobs in consulting, started a scientific blog, began taking night classes and attending conferences, found new jobs in research labs, and eventually earned PhDs in biomedical research at Harvard. They are now scientists at the Broad Institute of MIT and Harvard, where their research focuses on biomarker development and preclinical therapeutic testing, all oriented around the goal of primary prevention of prion disease.

Joan Reede, MD

President and Chair, Biomedical Science Careers Program 

Dean for Diversity and Community Partnership, Harvard Medical School

Joan Y. Reede, MD, MPH, MS, MBA is the Dean for Diversity and Community Partnership and Professor of Medicine at Harvard Medical School (HMS). Dr. Reede also holds appointments as Professor in the Department of Social and Behavioral Sciences at the Harvard School of Public Health, and is an Assistant in Health Policy at Massachusetts General Hospital. Dr. Reede is responsible for the development and management of a comprehensive program that provides leadership, guidance, and support to promote the increased recruitment, retention, and advancement of underrepresented minority, women, LGBT, and faculty with disabilities at Harvard Medical School (HMS). Dr. Reede has created and developed more than 20 programs at HMS that aim to address pipeline and leadership issues for minorities and others who are interested in careers in medicine, academic and scientific research, and the healthcare professions.

In collaboration with the Massachusetts Medical Society and the New England Board of Higher Education, Dr. Reede founded the Biomedical Science Careers Program (BSCP). A collaborative, community-based organization, BSCP’s scope of involvement includes academia, private industry, medical centers, public education, and professional societies. BSCP’s goal is to identify, support, and provide mentoring for underrepresented minority students, trainees, and professionals pursuing careers in the biomedical and health sciences.

The Red Sox Foundation

Accepted by:

Bekah Salwasser

Executive Director

The Red Sox Foundation is the official team charity of the Boston Red Sox. The Foundation's mission is to make a difference in the lives of children, families, veterans, and communities in need by improving their health, education, and recreational opportunities. Among its primary areas of focus is Home Base, a Red Sox Foundation and Massachusetts General Hospital Program, which is dedicated to healing the invisible wounds for Veterans, Service Members and their Families through world-class clinical care, wellness, education and research. As a National Center of Excellence, Home Base operates the first and largest private-sector clinic in the nation devoted to healing invisible wounds such as post-traumatic stress, traumatic brain injury, anxiety, depression, co-occurring substance use disorder, military sexual trauma, family relationship challenges and other issues associated with military service. Since inception, Home Base has served more than 21,000 Veterans and Family members with care and support, provided over 74,000 on-line and in-person training sessions to clinicians, educators, first responders and community members nationally, and remains at the forefront of discovering new treatments — ensuring a brighter future for the 21st century warrior and military family.