Abstracts for the 39th Human Genetics Society of Australasia Annual Scientific Meeting Perth, Western Australia: August 8–11, 2015 (original) (raw)

2015, Twin Research and Human Genetics

The global landscape for rare diseases and orphan products is evolving to meet unmet needs of the rare diseases community. An estimated 6-8% of the population has one of the approximately 6,500 to 8,000 genetic or acquired rare diseases. The exact number remains elusive. Patients, families, advocacy groups, foundations, government research and regulatory scientists, industry, and academic researchers are linked in coordinated, collaborative partnerships. This increased interest is due to several factors including the expanded role of advocacy groups as research partners resulting in improved patient recruitment for clinical studies. Greater research emphasis has increased funding for basic, clinical and translational research projects. The number of investigators experienced in multi-center, international clinical trials with small patient populations continues to increase with expansion of research networks. Ready access to internet-based information resources, publicity about genetic testing, gene therapy, stem cells, and personalized medicine have increased the public interest along with social media expansion and utilization as a source of information exchange. Expedited regulatory programs for serious conditions, including fast track and priority reviews, designation of compounds as breakthrough therapies, and conditional and accelerated approvals with an added emphasis on antibiotics, pediatric populations and repurposing of products add momentum to the development of orphan products. It is essential to understand the cultural, ethical, legal, and social issues related to data gathering and sharing from diverse populations. Increased sequencing capabilities will facilitate more accurate diagnosis of most rare and undiagnosed diseases. The industry pipeline of potential therapies is promising.