The Rare Moments
You know those rare moments that give you goosebumps? The ones that provide a new perspective, connect two ideas in a way you’ve never considered before, or just really hit home?
For Rare Disease Day this February, you’ll find a curation of those moments here — The Rare Moments. Patients, families, researchers, and people working to advance rare disease treatments will be using this space to pass on their goosebump moments. From past moments, to the significant highlights of the 2024 Rare Disease Week and Rare Disease Day, and even hopes for the future, here you will find diverse and valuable insights that matter to our community and expand our reader’s understanding of what it means to live with and work with rare diseases.
Be sure to check back regularly throughout the month to catch the latest posts and submit your Rare Moment for consideration!
See what’s been shared
That’s a wrap for now!
This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.
Resources
Incorporating the Patient’s Voice
White Paper
How To Build Mutually Beneficial Relationships with Advocacy Groups
Insights
How Worldwide and Every Cure Are Using AI To Unlock New Rare Disease Treatments
Insights
Meet Your Rare Disease Team
Fact Sheet
Rare Disease Day
rarediseaseday.org
Glut1 Deficiency Foundation | Research Compass
g1dfoundation.org
Workshop: Qualifying Biomarkers to Support Rare Disease Regulatory Pathways
reaganudall.org
Galactosialidosis Network
galactosialidosis.org
Every Cure
everycure.org
Uplifting Athletes
upliftingathletes.org
We live for the rare moments.
Thank you for sharing and reading this curation from our rare disease community!
We are happy to share the resources we have put together for our research community. One of the most important resources we have available is the Research Compass, which is our research guide based on our patients’ and parents’ priorities. Take a look!
Research Compass | Glut1 Deficiency Foundation
We believe progress will come quickest and easiest not in a straight path or roadmap, but by creating relationships and collaborations across the many scientific corners that touch our disease.…
www.g1dfoundation.orgI 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/
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.
www.fiercepharma.com/pharma/vertex-crispr-win-early-fda-nod-gene-therapy-casgevy-treat-beta-thalassemiaThe 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.
www.fda.gov/regulatory-information/search-fda-guidance-documents/rare-diseases-considerations-development-drugs-and-biological-productsGuidance for Industry
Rare Diseases: Considerations for the Development of Drugs and Biological Products
www.fda.govWorking 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!
charity.pledgeit.org/YID2024Support Young Investigator Draft
We are thrilled to announce that the Young Investigator Draft will be held at the Lincoln Financial Field in Philadelphia on February 3, 2024. This is a one-of-a-kind evening, honoring incredible rare disease researchers who are making a lasting difference for the rare community. Guests will be treated to great food, stadium tours, a thriving cocktail hour, a silent auction, and a dynamic, hour length show hosted by American professional wrestler Joe Spivak.
charity.pledgeit.orgWe have been working closely with Worldwide on a number of rare indications. They have a very engaging and knowledgeable team!
www.rarediseaseresearch.com/We are so excited to launch Rare Moments, our website dedicated to sharing updates from the rare disease community throughout the week of Rare Disease Day. Please share your memories, notes, events, thoughts, and resources during this week so that we can help elevate each other’s voices. So much happens during Rare Disease Week, so favorite this page and visit often to stay current on all things Rare Disease!