Rare genetic disorders- a search for treatment

The landscape of drug discovery and development for rare genetic disorders has undergone rapid growth in recent years. A PubMed search in April 2016 revealed a significant increase in publications related to rare diseases, indicating a growing focus in this area. With approximately 7,000 identified rare diseases, advancements in diagnostics and pharmacogenomics have improved our understanding, particularly of monogenic disorders.
Despite progress, challenges persist, notably in securing funding for early preclinical research. Organizations like the National Organization for Rare Disorders (NORD) have been instrumental in advocating for legislative improvements and providing funding support for drug development. Additionally, the NIH's commitment to funding rare disease research, regardless of patient population size, helps to address funding disparities. The development process for rare disease therapeutics mirrors that of common diseases, requiring substantial resources over a span of 10 to 12 years. Drug repurposing has emerged as a promising strategy, utilizing existing approved drugs for new indications. This approach offers advantages such as established safety profiles and expedited clinical trials.
Umbrella organizations like NORD play a crucial role in facilitating drug development for rare diseases by uniting patient advocacy groups and providing support across education, advocacy, research, and patient services. As research continues to expand our understanding of rare diseases and drug discovery technologies advance, the prospects for discovering much-needed treatments are promising. For more information, please refer to the original article