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This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.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!
Check out the Minnesota Twins’ Target Field lit up for Rare Disease Day!
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!
This year for Rare Disease Day the Tatton Brown Rahman Syndrome (TBRS) Community is celebrating our many accomplishments from 2023! We are building on that momentum in 2024 with additional research into TBRS biomarkers and continuing to enroll samples into our TBRS biobank. Read more and celebrate with us here:
Nick Allegretti won his 3rd Super Bowl ring this past weekend as a member of the Kansas City Chiefs! Nick is an advocate for the rare disease community through his work with Uplifting Athletes, where he is currently an active Board Member.
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
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-thalassemiaWe 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!