My interest in Prader-Willi syndrome is both personal and profession, and I am thrilled to be able to contribute to the important work of the Prader-Willi Research Foundation of Australia (PWRFA).
I have always been fascinated by science, and genetics in particular, and so I pursued a PhD in Genetics from the University of Alabama at Birmingham (UAB). I was fortunate to receive my postdoctoral training in the laboratory of Dr Francis Collins, a world-renowned geneticist who led the Human Genome Project and is currently the Director of the US National Institutes of Health. During my postdoctoral fellowship, I worked on the molecular genetics of cystic fibrosis and Huntington disease, before securing a faculty position back at UAB. At UAB, I've worked for the last 20 years on the development of gene therapy strategies for the treatment of cancer, working across the translation spectrum from discovery to human clinical trials.
But, it was during the last year of my postdoctoral training that my world got turned upside down - Prader-Willi Syndrome suddenly went from being an interesting page in my genetics textbook to being an overwhelming reality with the birth of my twin boys, one of whom was diagnosed with PWS. Along with a small group of like-minded parents, I helped establish the Foundation for Prader-Willi Research www.fpwr.org in 2003, with the mission to eliminate the challenges of PWS through the advancement of research. I have had the privilege of helping to advance Prader-Willi research around the globe for more than a decade. It has been exciting to see the progress to date as well as the new opportunities for our loved ones that are on the horizon.
Why are you involved in PWRFA?
I was very excited to learn of the founding of the PWRFA, and pleased to be invited to join the Scientific Advisory Board. There are many exciting opportunities and outstanding researchers in Australia, who have the experience and drive to push Prader-Willi syndrome research ahead through breakthrough therapies. PWRFA will accelerate that work by identifying new opportunities and bringing together a critical mass of scientists with the right expertise to spark new collaborations and investigations. The PWRFA will also provide a strong platform upon which the priorities of the patients and families can be incorporated into the research agenda. I'm excited to represent the US research efforts, with the goal of ensuring that the PWS research community is leveraging each others' strengths to advance global PWS research as efficiently as possible. I look forward to working with my Australian colleagues to achieve the mission of the PWRFA.