New technology helps solve the unsolvable in rare disease diagnoses https://buff.ly/4bdXMEZ #SupplyTech #LogisticsInnovation #TechInnovations #MarketIntelligence #SupplyChainTech
SupplyTech Breakthrough’s Post
More Relevant Posts
-
Medical Oncologist, Clinician-Scientist, Director (Cancer Discovery Hub) @ National Cancer Centre Singapore;曹永盛医生 ,肿瘤学顾问 (新加坡国立癌症中心)
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 most excited to share the print version of our group's latest paper on multicentric Castleman disease, published in this week's issue of Blood and featured on the front cover as the issue's highlight!! Read the full text here: https://lnkd.in/g2bi43KJ Read the accompanying commentary here: https://lnkd.in/gE5gxbym #starlightinitiative #rarecancersg #lymphoma
Single-cell landscape of idiopathic multicentric Castleman disease in identical twins
ashpublications.org
To view or add a comment, sign in
-
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
Using data to speed up diagnosis of rare diseases - Barts Life Sciences
https://bartslifesciences.org
To view or add a comment, sign in
-
Researchers at Karolinska Institutet have developed scDrugPrio, a computational model for creating a "digital twin" of autoimmune diseases. This model enables personalized medication choices by analyzing cellular interactions and drug effects. This innovative approach, validated in studies on mice and patients with inflammatory bowel disease, promises to enhance treatment efficacy and reduce healthcare costs by selecting the most effective drugs for individual patients based on the disease's genetic and cellular complexities. #DigitalTwins #ComputationalModels
scDrugPrio: Revolutionizing Autoimmune Disease Treatment By Creating Digital Twins https://lnkd.in/enAEFrt7
scDrugPrio: Revolutionizing Autoimmune Disease Treatment By Creating Digital Twins - Medical News Observer
medicalnewsobserver.com
To view or add a comment, sign in
-
The diagnostic odyssey of those suffering from rare disease is well known. The causes range from hidden symptoms to symptoms that mimic more common conditions. Fortunately, many are working to shorten the odyssey, lessen the burden on the patient and correctly diagnose rare disease patients earlier. But after they are diagnosed, what happens then? In a feature for PM360 Magazine, our Chief Strategy Officer, Andrew Bast details what needs to happen next and how to move patients from diagnosis to a pathway of care. https://lnkd.in/eZUH3PqH #raredisease #rarediseasetreatment
Patients Found! Now What?
https://www.pm360online.com
To view or add a comment, sign in
-
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!
The diagnostic odyssey of those suffering from rare disease is well known. The causes range from hidden symptoms to symptoms that mimic more common conditions. Fortunately, many are working to shorten the odyssey, lessen the burden on the patient and correctly diagnose rare disease patients earlier. But after they are diagnosed, what happens then? In a feature for PM360 Magazine, our Chief Strategy Officer, Andrew Bast details what needs to happen next and how to move patients from diagnosis to a pathway of care. https://lnkd.in/eZUH3PqH #raredisease #rarediseasetreatment
Patients Found! Now What?
https://www.pm360online.com
To view or add a comment, sign in
-
Alpharmaxim.com 👈 Communications strategies and tactics which challenge and change behaviours across the healthcare community
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.
The diagnostic odyssey of those suffering from rare disease is well known. The causes range from hidden symptoms to symptoms that mimic more common conditions. Fortunately, many are working to shorten the odyssey, lessen the burden on the patient and correctly diagnose rare disease patients earlier. But after they are diagnosed, what happens then? In a feature for PM360 Magazine, our Chief Strategy Officer, Andrew Bast details what needs to happen next and how to move patients from diagnosis to a pathway of care. https://lnkd.in/eZUH3PqH #raredisease #rarediseasetreatment
Patients Found! Now What?
https://www.pm360online.com
To view or add a comment, sign in
-
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
Updated antiphospholipid syndrome classification criteria
medicalxpress.com
To view or add a comment, sign in
-
CEO-NOVELORICA | FOUNDER-The HUMAN Perspective • AcquiredSavant w/ Synesthesia • Contemplative Artist & Theologian • Entrepreneur • Ethical AI • Published Writer • Keynote Speaker
The #diagnosticodyssey in Europe for people with #raredisease shown in a diagram - 300M people have rare diseases world wide. That doesn’t include those that suffer with unexplained symptoms, and therefore no diagnosis/no treatment. We must do better. #thepatientperspective
The average time to diagnosis for a rare disease in Europe is 4,7 years. Let that sink in for a while... To that, add the fact that 70% of all rare disease patients are children and that 30% of them will not reach the age of 5. https://lnkd.in/dKPgsaVf
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey - European Journal of Human Genetics
nature.com
To view or add a comment, sign in
-
Agency Principal and Founder | Behavioural Science Advocate | Future of Healthcare Communications | Facilitator | Speaker | Agent for Change | Narrative Developer | Biopharma Marketing Expert
A key approach outlined here by Andrew Bast. Simply finding the patients in #rarediseases is probably not enough. It is often such a change in routine and focus for them, their carers and all the professionals involved that there will be hidden barriers to adopting any new medication. This is why we have developed the H-BIT - a tool to uncover the hidden barriers, validate them and give direcitons on the best probable solutions.
The diagnostic odyssey of those suffering from rare disease is well known. The causes range from hidden symptoms to symptoms that mimic more common conditions. Fortunately, many are working to shorten the odyssey, lessen the burden on the patient and correctly diagnose rare disease patients earlier. But after they are diagnosed, what happens then? In a feature for PM360 Magazine, our Chief Strategy Officer, Andrew Bast details what needs to happen next and how to move patients from diagnosis to a pathway of care. https://lnkd.in/eZUH3PqH #raredisease #rarediseasetreatment
Patients Found! Now What?
https://www.pm360online.com
To view or add a comment, sign in
-
📣 Read all about it! An international group of over 550 people, including PPMI researchers, are calling for a standardized framework that would utilize objective measures to define #Parkinson's stages through biological markers, instead of disease symptoms. Read more here: https://lnkd.in/eePJYe3y
New framework for Parkinson's stages is based on disease biology
https://parkinsonsnewstoday.com
To view or add a comment, sign in