Before you read, don't forget to check out Part 1 of our interview with Laura, Nicole's mom. In Part 1, we discuss Nicole's diagnostic journey, what acute lymphoproliferative syndrome (ALPS) is,…
I recall the day, almost six years ago, when I observed the liveliness of joy in one who paraded around in a pink frilly skirt, smiling with merriment while wearing…
Two and a half years — that is how long it took for the Roublick family to learn that their daughter Nicole had an extremely rare condition called autoimmune lymphoproliferative…
Whole genome sequencing is providing high-level information about new rare diseases putting pressure on drug developers to pick up the pace. Of approximately 7,000 rare diseases, most do not have…
The most dramatic. Season. EVER!!! If you've ever watched "The Bachelor" or "The Bachelorette," you've probably heard this refrain from the show's host, talking up the ridiculous antics that keep our eyes…
Compassion [kuhm-pash-uhn] noun A feeling of deep sympathy and sorrow for another who is stricken by misfortune, accompanied by a strong desire to alleviate the suffering. Compassion Corner is a…
On January 26, 2023, the Rare Disease Legislative Advocates (RDLA) hosted their monthly webinar. These webinars help provide updates to the rare disease community on legislation and other policy initiatives…
This is Part 2 of a two part story. Check out Part 1 here. The loss of his child through Edwards Syndrome helped Dr. Harsha Rajasimha understand the suffering and…
The number of identified rare diseases continues to climb every year, with the number recently reaching the 11,000+ mark. Some of them have only a handful of identified cases, and…
Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…
PART I The baby died almost immediately after birth. Edwards Syndrome is a rare congenital disease. Only about ten percent of newborn babies survive past their first year. Babies…
When Arica Svoboda thinks of her two children, Hayes and Hendrix, she can’t help but fill up with love. She tells Patient Worthy: “My boys are special. Their smiles and…
An opinion expressed by Sheila Frame, President of Americas at Amryt Pharma, was published recently in the Pittsburgh Post-Gazette. Ms. Frame, who serves on the board of the Rare…
The other day I read a post in a dystonia support group that is similar to something I see and hear very often. I’m sure you have as well, and…
Genethon is a non-profit organization committed to the design and development of gene therapies for rare diseases. This unique company is a pioneer in identifying genes relating to genetic…
Having lived with chronic pain and involuntary muscle contractions from a neurological movement disorder called dystonia since 2001, I felt defeated many times. But I am still here battling every day… and…
New Delhi: Recent headlines in the Hindustan Times highlighted a letter written by the leader of the Bharatiya Janata Party, Varnum Gandhi, to Health Minister Mansukh Mandaviya urging him…
On January 6, 2023, the FDA granted conditional approval to a new Alzheimer’s drug, lecanemab, that will be sold as Leqembi. Vox carried the original story and included an…
The 64th ASH Annual Meeting held on December 10, 2022, focused on various approaches for hematologic diseases with the goal of improving quality care and outcomes. Dr. Stephanie Lee, of…
Rare disease stakeholders are called on to participate in the first Rare Disease Therapeutic Alliance of 2023 featuring an agenda presented by Rare Advocacy Movement experts. The agenda will…
Compassion [kuhm-pash-uhn] noun A feeling of deep sympathy and sorrow for another who is stricken by misfortune, accompanied by a strong desire to alleviate the suffering. Compassion Corner is a…
423 words 10% matched vs 524 words 5% matched The Rare Diseases International Organization reports that the groundbreaking UN Resolution on Persons Living With a Rare Disease (PLWRD), effective…
Before you read on, don't forget to check out Part 1 of our interview. In Part 1, Alex discusses the multi-year diagnostic odyssey to discover that Raymond has VAMP2. Today, we talk…
On December 23, 2022, President Joe Biden officially signed the Consolidated Appropriations Act, 2023. This bill sets in stone the federal government's budget for the year, so naturally it includes…
Do you wish to be heard? Recently PR Newswire announced that on the 28th of February 2023, NORD and the worldwide community of rare disorders will be raising awareness…
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