Beacon for Rare Diseases’ Post

It was almost 6 years ago that these pair of identical twin sisters walked into my clinic. Back then, they had been "diagnosed" with enlarged lymph nodes and severe anemia of unknown cause following a health screen, and decided to seek further help at the National Cancer Centre Singapore. It was clear to us back then that we were all in a common "zone of the unknown". We did not know what was going on and I did not know how to treat them. The room was silent as I told them frankly that I did not know what was going on. What happened afterwards, rather magically - was a handshake of trust (with each twin), and a promise of close patient-physician collaboration. I told them that we will form a team and we will find out the answer together one day. Fast forward to September 2021, we officially announced the #starlightinitiative for rare cancer research. We formed a team with a national mandate to steer rare cancer research into the light. Fast forward to 2024, we finally solved "The Mystery of the Castleman" and got international expert approval of our diagnosis. We uncovered gene mutations that possibly cause this disease and identified the culprit cells that produces a key protein, IL-6, that leads to the many symptoms of this disease. Today, we present the world's first description of multicentric Castleman disease in identical twins, gracing the cover page of Blood as the issue highlight and we are humbled to read the commentary by Castleman disease hero David Fajgenbaum, MD, MBA, MSc. This work would not have been possible without research funding and close support from industry partners BGI · Research NovogeneAIT Genomics Mirxes 10x Genomics. Jui Wan Loh Jing Quan Lim Herty Liany Elizabeth Chun Yong Lee Jing Yi Lee Bavani Kannan Lim Boon Yee (Bonnie) Alun Guo Cedric Ng Tun Kiat Ko HUANG DACHUAN Chee Leong Cheng Sock Hoai Chan Joanne Ngeow Bin Tean Teh Soon Thye LIM Choon Kiat Ong Kerry Lim Jeslin Ha Dominique Seow Cancer Discovery Hub #starlightinitiative #rarecancersg #lymphoma #castlemandisease #singlecellsequencing #stereoseq #spatialtranscriptomics

We are really excited about this partnership with Barts Life Sciences to improve diagnostic outcomes for people living with a Rare Disease! You can read more about it in the article below ⬇️ https://lnkd.in/degJDYmi #SanofiUK

The special edition episode of The Balancing Act, entitled “Behind the Mystery of Gaucher Disease”, is still available on our website to be viewed in full. The video shares information and stories about #treatmentoptions, #genetherapies and how the #Gaucher community are looking to the future to improve #qualityoflife of people with Gaucher disease through reducing the need for frequent interventions.  Featuring experts, #patientadvocates, a #patientstory and #PrevailTherapeutics, you can find and watch the full episode here: https://lnkd.in/eZG8P5Hp #gaucherawareness 

To develop safe and effective treatments for rare diseases, sponsors and CROs must conquer unique challenges while easing participant burdens. Get answers to questions like… ❔ What makes rare disease research different? ❔ How can research teams reduce participant burden? ❔ What are strategies to improve participant engagement? https://bit.ly/3QBMvG2 #RareDisease #ClinicalTrials #ClinicalResearch

It is so often that we hear 'the drug will sell itself', and the surprise when great efficacy or data don't result in rapid adoption. By uncovering and addressing the hidden barriers, the things that market research don't tell you, the habits and beliefs of your audience, you can accelerate adoption and be sure that the story you are telling is the story that is needed to achieve positive change.

Updated #antiphospholipid #syndrome classification criteria: EULAR and ACR have worked together to develop a new APS classification system based on modern disease understanding. https://buff.ly/3QF1MHy

To do or not to do: rare disease edition. Placebo control is challenging, especially so in rare disease studies. When in doubt, check out our insights into this great debate: https://bit.ly/48fDk54 #PlaceboControl #RareDiseaseTrials "

For centuries “Traditional” scientists or “vivisectors” have led the public to believe that humans are Beagle Hounds, Mice, Monkeys, Rats, Goats, Pigs and have been looking to cure our human diseases by giving these animals our illnesses. How ridiculous, cruel, and dangerous is that? These “Traditionalists” have interfered with genes, carried out xenotransplantation, and gain of function experiments in animals for years. These people are “Frankenscience”-ists and will be remembered in history for their ignorance, cruelty, and the massacre of billions of sentient souls. “The way of the future” is here, this type of science is available now. The biggest question is why the 🤬🤯🤬🤯 are they still abusing, torturing and killing animals in laboratories?

Dive into the fascinating world of our immune system through the exploration of a rare disease. Check out more insights in our Eureka Blog with Christoph Eberle, PhD: https://okt.to/bvp28c

Check out my article in PM360 Magazine about building care pathway in rare disease. It's not enough to find them. We need to help get them access to the care these patients need and deserve!