The Rare Moments

I had such a fulfilling experience visiting my members of Congress as part of Rare Disease Week on Capitol Hill. My fellow advocates and I raised our voices to encourage their support of policies that benefit rare disease patients. Hearing everyone’s stories was so inspiring.

This Rare Disease Day, I am thinking about how phenomenal it is to see how rare oncology patients have benefitted from the 6 CAR T treatments now available! It is exciting to watch how continued advancements have turned CAR T into a new development paradigm for autoimmune diseases – looking forward to seeing these additional patient communities benefit from cell therapy!

In celebration of Rare Disease Day, I am excited to share our most recent draft class from the 2024 Young Investigator Draft! This year we highlighted the significant potential of research in this space when powered by the platform of sports—especially as we surpassed our $1 million in total funding granted. You can watch a recap of the event at the below link!

When my daughter was diagnosed with WAGR syndrome, none of the doctors that were treating my daughter knew anything about WAGR. Since that time, I’ve dedicated my time and energy to advocate for my daughter, spreading awareness of WAGR throughout my local and the international communities.

Rare diseases affect hundreds of millions of people globally, presenting a massive challenge to health equity. Our team is focused on changing that sad reality for patients across many therapeutic areas. From rare cancers such as the one that took my sweet cousin Ryan last year to rare cardiovascular diseases, I’m proud of how hard our teams work every single day to improve the standard of care for rare disease patients. Their passionate and purposeful commitment to saving and improving lives is not just a job; it’s creating meaningful change for our loved ones, their caregivers, and for humanity as a whole.

With extensive commercialization expertise and deep knowledge of rare diseases, Trinity Life Sciences has supported the launches of some of the most impactful drugs and therapies globally. We remain committed to helping our clients overcome unique commercialization challenges faced by specialized treatments and strive to create a better future for those living with rare diseases.

The Phelan-McDermid Syndrome Foundation is excited to celebrate Rare Disease Day 2024! You can learn more about Phelan-McDermid Syndrome by reviewing our infographic and by visiting our website at pmsf.org.

With approval of the first treatment to use gene editing to address a genetic rare disease, plus all the very recent innovations in base editing, prime editing, and lipid nanoparticle delivery, I’m hopeful we’ll see an ever-increasing number of gene editing programs in development for patient communities with genetically driven rare diseases. Kudos to the pioneers with development programs for rare cardiovascular diseases, rare blood cancers, rare hemoglobinopathies, rare bleeding disorders, rare metabolic disorders, rare neuromuscular diseases, and rare inherited retinal diseases!