What is the focus of our program— what questions are we asking?
We’re puzzled. How do just a few inherited mistakes in DNA completely change the lives of people with genetic diseases? Beyond this understanding, what can we do to improve the lives of those families and their loved ones? Our teams have explained rare diseases and enabled treatments. The discoveries in rare genetic diseases light obscure paths that impact more common disorders. We focus on discovery of new disorders and better understanding of those we already know.
Research in the Human Genetics program probes pathological mechanisms using patient cells, zebrafish and mouse models, and stem cell technologies. Strong patient and advocacy relations serve as a foundation for the program’s goal to develop clinically useful assays and opportunities to move basic research into translational medicine. Technological breakthroughs in human genetics offer an unprecedented opportunity to provide solid information and guidance.
How will our research help patients?
Our research already helps patients because we developed therapies from our fundamental science. Discovery of new genetic diseases has both informed families and provided new research tools and perspectives to the scientific community. We will create disease in a dish models from the patients’ own cells. Dish-based search for therapeutic compounds offers the hope of treatments. Beyond the dish, we develop a broader understanding by studying genetic disorders in animal models, such as zebra fish and mice. They help validate the power of these potential therapies. It may be a long road, but we have the heavy equipment and dedication to build it. Let’s get started.
Rare Disease Day—on the last Friday in February—is an annual, international event that seeks to raise awareness about rare diseases and their impact on patients’ lives. Since its inception in 2010, SBP’s successful series of Rare Disease Day symposia bring scientists, physicians, affected patients and their families, and research sponsors together to share their experiences and knowledge.
The next Rare Disease Day Symposium is coming. We hope you'll join us.