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.
