Getting ready to travel to Philadelphia, Pennsylvania to celebrate Maurizio Risolino, PhD and T.E.A.M. 4 Travis Scientific Advisory Board member, as he receives an Uplifting Athletes Young Investigator Draft matching grant to continue studying Isolated Congenital Asplenia at the Selleri Lab at the University of California, San Francisco (UCSF). The grant is co-funded by Uplifting Athletes and T.E.A.M. 4 Travis.
Maurizio is one of 9 researchers in the 2022 Draft Class, each nominated by a Patient Advocacy Organization (PAO) like ours. Together with Uplifting Athletes, each nominating PAO will co-fund $20,000 to their chosen Young Investigator, allowing the researcher to continue their work studying the respective rare disease the PAO supports.
I first met Rob Long, UA's Executive Director, at the Global Genes Rare Patient Advocacy Summit in San Diego in 2019. Rob was taken with Travis' story, and is himself, no stranger to the rare disease world. Rob was a world-class college football player at Syracuse University, with the world at his feet and an agent ready to help him transition into the world of professional football, when he received the devastating diagnosis of a very rare brain tumor. He was given a life expectancy of just 3 years. That was over a decade ago, and he is still here, still passionately advocating for the rare disease community (patients, families and the doctors and researchers who doggedly pursue diagnoses, treatments and hopefully, cures). Maybe the fact that Rob played for the Syracuse University Orangemen, and Travis' favorite color was orange forged some sort of a divine connection that led to our friendship. Rob even has his own special custom #SpreadTravisLove rock featuring his Syracuse football jersey proudly displayed in his office.
Getting to know Rob and the wonderful work Uplifting Athletes does to support rare disease researchers, I knew we wanted to be part of the Young Investigator Draft. It allows us to double our contribution to Maurizio's work to find out more about the genetic mutations that cause Asplenia, and maybe lead to development of a test that diagnoses this deadly disease before it becomes fatal for a child. You see, rare disease researchers have something in common with elite college athletes. Often, they've spent their entire lives studying and training, pursuing advanced degrees and competing for elusive grant money to fund their work, showing dedication and determination in perfecting their craft. One huge difference is their work often goes unnoticed and they rarely get the chance to hear the roar of the crowd like first-rate athletes do. Uplifting Athletes gives us a platform to cheer on Maurizio and the other members of the 2022 Draft Class, and support their tireless efforts to make a difference for rare disease patients and families throughout the world.
I first met Maurizio in early 2019. He was (and still is) a member of the Selleri Lab at UCSF. He was part of the team who discovered one genetic mutation responsible for Isolated Congenital Asplenia. I first contacted Dr. Licia Selleri because of their work in studying ICA. She introduced me to her colleague, Dr. Jean-Laurent Casanova, and invited me to visit her lab at UCSF. She even searched for Travis' picture online, found it, printed it and displayed it on their lab bulletin board, declaring Travis an honorary lab member!
During that visit, I toured the lab, met Licia, Maurizio and others, and learned about their work in studying ICA in the mouse model, trying to get a better understanding of the disease. Maurizio told me that it was very helpful for them to meet a parent of a child with ICA, and inspirational to know that their work really does matter, that it can make a difference for children and families. He was glad to know there is someone willing to help raise awareness about this very rare disease. We had just established T.EA.M. 4 Travis and were awaiting IRS approval as a 501c3 charitable organization. At the time of the visit, we knew so little about the rare disease community.
Now, here we are, 3 years later, able to help fund Maurizio's work. We move forward, raising awareness about ICA, developing our patient community and cheering on Maurizio and all the wonderful researchers determined to help improve the lives of rare disease patients.