Collaboration for rare disease drug discovery research

Abstract

Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives.

Genomic Medicine–Progress, Pitfalls, and Promise

“…In the past few years, with increasing investment from pharma in rare diseases (Litterman et al, 2014), the second coming of gene therapy (Dunbar et al, 2018), and the third wave of genome editing platforms (Gaj et al, 2013), there is justified excitement about the development of therapies, and possibly even cures, for select Mendelian disorders. A full consideration of these is beyond the scope of this Perspective, but we briefly highlight four examples.…”

Drug development and open access: approaches and perspectives

“…These public organizations finance the initial research programs in biopharmaceutical companies, provide access to the corresponding disease experts and help with clinical trials recruitment. Financing of the first stage of drug discovery process and supporting the data sharing throughout the whole process both significantly help to accelerate the development of new drugs for rare diseases [6].…”

Разработка Лекарств И Открытый Доступ: Подходы И Перспективы

“…Эти общественные организации финансируют начальные этапы разработок, обеспечивают участие в них специалистов по соответствующим заболеваниям и помогают в наборе волонтеров для участия в клинических исследованиях. Как финансирование первой стадии поиска лекарств, так и поддержка открытого доступа к данным в течение всего процесса позволяют существенно ускорить поиск новых лекарственных препаратов от редких болезней [6].…”