The Rare Moments

Rare disease research is vital because it offers hope to patients with limited treatment options and helps unravel the wild complexities of human biology. I am thrilled to be part of an organization that strongly supports this critical work, and my hope is that our efforts will lead to groundbreaking discoveries and improved quality of life for those affected by rare diseases. Writing this in honor of my dear friend who continues her fight with sickle cell disease.

As a former research scientist who worked in pre-clinical and translational research for rare neurodevelopmental disorders, I have great compassion and hope for all impacted by a rare disease. I know the immense burden of caregiving expands beyond the immediate family. I have seen parents go to scientific conferences armed with information they’ve independently researched about complex biological and physiological phenomena so they can ask pointed questions and understand the answers. We are seeing technology and science advance in tandem at a staggering rate. Our push in pre-clinical and clinical work to understand pathophysiology and targeted therapeutics better sustains my hope. For example, scientists are developing pre-clinical models to grow human pluripotent stem cells derived from a simple tissue biopsy on microchips and test responses to novel drugs or therapies to ensure safety, begin testing efficacy, and facilitate a more rapid bench-to-bedside pipeline. I envision a future where people only reference these conditions in a medical history textbook. It takes a village, and ours is growing.

I have seen so many families without hope losing children (young and adults) to rare diseases despite the investment of time/money, and emotions. One of the most fulfilling days for me was when one such family was able to watch their child markedly improve about 8 months after treatment!

I am happy to be a part of the Worldwide Clinical Trials Rare Disease team. I love knowing my work and efforts can make a difference for an underserved population.

This year, I had the opportunity to facilitate roundtable discussions at both World Orphan Drug Congress (WODC) Europe and WODC United States. These discussions explored operational challenges and ethical barriers surrounding genetic testing, and I was fascinated to discover what varied conversations the different regions had. While WODC Europe centered heavily on ethical considerations around genomic and genetic data, WODC U.S. was highly operationally focused.

With Rare Disease Day in two weeks, I feel so fortunate to help further these conversations around genetic testing, which can make a significant impact in the treatment of rare disease patients around the world.

Check out my blog to learn more about the key regional distinctions:

With Rare Disease Day coming up, I’m reflecting on the continued innovations in CAR T treatments for rare oncology patients over the last few years. The global research community launched a record number of CAR T clinical trials in 2024, gaining momentum while building on the strength of several approved CAR T treatments. I’m excited to see these treatments now developed for rare patient communities outside of oncology and looking forward to being part of setting these new standards of care.
 
Find out more about bringing CAR T to new clinics in my on-demand webinar: 

Hear from Nathan Chadwick, Senior Director and Therapeutic Strategy Lead for Rare Disease.

We work in a way to make the data in clinical trials meaningful to the community. I recently had the honor of hosting a webinar to learn about endpoints that are meaningful to patients and their families living with developmental and epileptic encephalopathies (DEE). Check it out here!

We are so excited to re-launch Rare Moments, our website dedicated to sharing the stories and experiences of the rare disease communities throughout the month of February in honor of Rare Disease Day. Please use this safe space to share your memories, notes, events, thoughts, and resources so that we can help elevate each other’s voices and connect like-minded individuals. So much happens during and ahead of Rare Disease Week, so bookmark this page and visit often to stay current on everything rare disease!

We’re excited to relaunch Rare Moments—a space to share updates, events, and resources throughout the month of February. Join us in amplifying voices and stay connected by bookmarking the page!