The Rare Moments

What does the future of genomic medicine look like?

Join us for our FREE webinar on February 27th, 1-3 pm ET, as we explore some possible answers to this question. Kelly Athman from the Institute for Genomics Education, Workforce & Leadership at Sarah Lawrence College will guide us through our journey into the future with talks from Amy Gaviglio, Billie Lianoglou, and Derek Ansel. We will discuss newborn screening modernization, cutting-edge therapeutic advancements, and the genomics workforce evolution.

This event is open to all. Please register at the link below.

The Worldwide Rare Disease team just registered for the Rare Disease Day at NIH 2024 event located at NIH Main Campus on Thursday, Feb. 29, 2024, from 9 a.m. to 5 p.m. EST. I’m personally excited to learn more about what the NIH is thinking about in terms of AI during the session, Artificial Intelligence (AI), and Its Potential Role in Rare Diseases. Register at the link below, and see you there.

Over the weekend, we attended the Uplifting Athletes 2024 Young Investigator Draft. We are proud to sponsor this event. If you were unable to attend the draft, you can watch a recording of the event on YouTube, link below. Congratulations to all the draftees!

Come join us at the Glut 1 Deficiency Summit in June 2024! We are excited about our biennial gathering with all stakeholders in our community. There will be a Scientific Session on Jun 26 -27, a Clinical Session on June 28, and a family session on June 29. Registration is now open!

2024 Glut1 Deficiency Summit

Looking for a good resource for clinical trial advice and guidance? I highly recommend the Reagan Udall Foundation for the FDA.

Just in time for Rare Disease Day: “Qualifying Biomarkers to Support Rare Disease Regulatory Pathways”

Register at the link below!

I am in an extended family caregiver circle for a child recently diagnosed with a rare disease. The journey has been humbling and heartbreaking, and my lens continues to change with the work that needs to be done in this space. It’s not just a day, week, or month to highlight; it’s all day, every day, a constant struggle for families and caregivers every hour, a deeply vulnerable space where they need to have Clinical Research as a care option, no matter where they are in the world.

I know I’m privileged to work in this industry to help make a difference, helping companies navigate the development pathways, communicating with regulatory agencies, working with my colleagues to help incorporate the patient voice, and ensuring the experiences that patients and caregivers have in a clinical trial have them front and center not just data points in studies.

My personal lens serves only to raise the game with what we need to do. I am here to help make treatments for rare diseases less rare. Patients can’t wait.

https://www.efpia.eu/about-medicines/development-of-medicines/intellectual-property/help-us-make-rare-disease-even-rarer/

So excited that the countdown to Rare Disease Day has begun! I’m looking forward to attending Rare Disease Week on Capitol Hill in Washington, DC. This important week connects patients, advocates, caregivers, and community members with members of Congress to enact much-needed change to inform policy that impacts patients and families living with a rare disease. Keep your eyes on this page during that week, as we’ll continue to post updates as they occur.

I’m amazed with the technologies used to treat patients living with a rare disease, including gene-based therapeutics. These drugs often target the underlying cause of the disease. One example of this is Casgevy, which was approved to treat patients with sickle cell disease in December 2023 and was recently approved for patients with beta-thalassemia in January 2024. I look forward to seeing more of these treatments throughout 2024.

The number of rare disease clinical trials increases every year. Not only are these trials getting more and more complex, but the mode of administration is often very challenging. In December 2023, the FDA released its guidance document entitled Rare Diseases: Considerations for the Development of Drugs and Biological Products. The comments from the FDA on the importance of engaging patients, caregivers, and their advocates in the drug development process is something we take very seriously at Worldwide.

Working with the rare community is a privilege — being able to connect in-person is even better! I’m very excited to celebrate 10 early-career scientists who are passionate about rare research this Saturday, February 3, 2024, ahead of Rare Disease Day at Uplifting Athletes’ 2024 Young Investigator Draft. This year, Uplifting Athletes will also be celebrating surpassing their first $1 million of grant money funded!