What is the focus of our program—What questions are
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.
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.