Rare diseases Conferences at Fundación ARECES-VHIR

The NIH Common Fund supports a series of exceptionally high-impact research programs that are broadly relevant to health and disease. Common Fund programs are designed to overcome major research barriers and pursue emerging opportunities for the benefit of the biomedical research community at large. The research products of Common Fund programs are expected to catalyze disease-specific research supported by the NIH Institutes and Centers.

Currently, there are fewer than 400 approved treatments for approximately 7000 rare diseases affecting more than 30 million Americans. The science exists for many of these diseases to be treated; however, treatments may never be developed because of roadblocks in the therapy development process, such as a lack of adequate disease models and assays, a dearth in public and private investment, difficulties in conducting clinical trials, and a challenging regulatory environment.

Advances in basic and preclinical science continue to fuel the drug discovery pipeline, however only a small fraction of compounds meet criteria for approval by the US FDA. More than 30% of promising medications have failed in human clinical trials because they are determined to be toxic despite promising pre-clinical studies in animal models, and another 60% fail due to lack of efficacy. The challenge of accurately predicting drug toxicities and efficacies is in part due to inherent species differences in drug metabolizing enzyme activities and cell-type specific sensitivities to toxicants. These challenges are particularly acute for rare diseases where adequate tools and resources are severly lacking. To address this challenge in drug development and regulatory science, the US NIH has invested 75 million dollars over a 5-year period to launch the Microphysiological Systems (MPS) or Organs-on-Chips Program to develop alternative approaches that would enable early indications and potentially more reliable readouts of toxicity or efficacy.

The MPS program is a partnership between the NIH, DARPA, and the FDA. The goal of the program is to develop bio-engineered microdevices that represent functional units of the 10 major human organ systems: circulatory, respiratory, integumentary, reproductive, endocrine, gastrointestinal, nervous, urinary, musculoskeletal, and immune. The opportunities for significant advancements in the prediction of human drug toxicities through the development of microphysiological systems, requires a multi-disciplinary approach that relies on an understanding of human physiology, stem cell biology, material sciences and bioengineering. This unique and novel in vitro platform could help ensure that safe and effective therapeutics are identified sooner, and ineffective or toxic ones are rejected early in the drug development process. These microfabricated devices are also useful for modeling human diseases and may prove to be sufficient alternatives to the use of animal models. At the end of the five year funding period it is anticipated that the availability of these systems to a broader research community will foster a multitude of new research applications including, but not limited to studies in rare diseases, personalized medicine, environment exposures, reproduction and development, infectious diseases, cancer, countermeasures for chemical warfare, immune responses and neuro-inflammation.