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This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.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!
The International Autoimmune Encephalitis Society (IAES) is the only family/patient-centered organization for people with a diagnosis of Autoimmune Encephalitis. The services we provide are all-inclusive, from getting a diagnosis to recovery and the many challenges experienced on that journey. IAES provides science-based information backed by trusted medical experts in the field of autoimmune neurology and relies on the expertise of our Medical Advisory Board. We are an established non-profit organization with a history of supporting Autoimmune Encephalitis Warriors (patients, caregivers, and families) through their journey from diagnosis to recovery.
International Autoimmune Encephalitis Society
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.
www.sarahlawrence.edu/news-events/events/detail/15718The Therapeutic Odyssey Series Part 3: The Future of Therapeutics in Genomic Medicine
There’s always something happening at Sarah Lawrence College. Browse our Events Calendar and learn more about upcoming events on campus and open to the public.
www.sarahlawrence.eduThe 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.
ncats.nih.gov/news-events/events/rddOver 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 | Glut1 Deficiency Foundation
2024 Glut1 Deficiency Summit We are already excited about our next biennial gathering of the entire stakeholder community at our Glut1 Deficiency Summit! We have special sessions planned to build…
www.g1dfoundation.orgLooking 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!
reaganudall.org/news-and-events/events/qualifying-biomarkers-support-rare-disease-regulatory-pathways?eType=EmailBlastContent&eId=19376a08-fdbf-4eb0-8737-9dcf86db1dc1I’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-thalassemiaWorking 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 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!