The Rare Moments

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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This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.

Updated 4 months ago
Nisha Trivedi Nisha Trivedi

I had such a fulfilling experience visiting my members of Congress as part of Rare Disease Week on Capitol Hill. My fellow advocates and I raised our voices to encourage their support of policies that benefit rare disease patients. Hearing everyone’s stories was so inspiring.

Sara Davis Sara Davis Worldwide

We are proud to support and bring awareness to Triple Negative Breast Cancer Day which was yesterday, March 3rd. Individuals in the United States have a 1 in 8 chance of developing breast cancer and TNBC accounts for 10-25% of those breast cancers. Me and many others at Worldwide are excited to take part in the many events occurring throughout March that bring awareness to this disease. Please join us at any of the highlighted events listed below.
Rob Long Rob Long Uplifting Athletes

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!

Derek Ansel Admin Derek Ansel Worldwide

Jim Geraghty said it best today at the 9th Annual Rare Disease Day Event at the Broad Institute. “It’s a marathon, not a sprint,” when it comes to rare disease research. Always a science-focused and inspiring event at the Broad!

The N=1 Collaborative The N=1 Collaborative

Connecting, Collaborating, Communicating, Challenges: Sharing experiences navigating family conversations in an n-of-1 investigational treatment setting. Learn more, below!
Armelle Pindon Armelle Pindon Cure VCP

Happening now through 25 Feb – VCP International Conference!! Check out the abstracts from the many researchers who are participating in this meeting. By bridging the gaps between various disciplines, from oncology to neurodegeneration, the Cure VCP conference will drive innovation and coordination in research, accelerating our progress to find a cure for valosin-containing protein (VCP) associate multisystem proteinopathy (MSP).
Daniel DeFabio Daniel DeFabio Global Genes

Fall of 2015, I attended my first rare disease advocacy conference. It was Global Genes Patient Advocacy Summit. I was overwhelmed and amazed at how many people were advocating for rare diseases and how many different paths they took. Meeting Bo Bigelow there certainly shaped my path. Although we faced different diagnoses (USP7 for his daughter Tess and Menkes Syndrome for my son Lucas), we had so much in common. Eventually we co-founded The Disorder Channel to stream rare disease films on TV. We collaborated with Global Genes to screen some of these films. And three years ago, I joined the staff at Global Genes to lead an online support community, to encourage others to share their #ZebraTales, to teach them rare disease filmmaking, and to help plan that same conference that started it all for me.

Zebra Tales
International Autoimmune Encephalitis Society International Autoimmune Encephalitis Society International Autoimmune Encephalitis Society

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

Katie Gallagher Katie Gallagher Sarah Lawrence College Graduate Program in Human Genetics

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.
Derek Ansel Admin Derek Ansel Worldwide Clinical Trials

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.

We live for the rare moments.