The inspiring journey of physician-scientist Dr. Anna Greka and her groundbreaking work on Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is a story you won't want to miss! Dr. Greka is a true "molecular sleuth," taking on the some of the world's rare diseases. Her curiosity-driven research, inspired by the patients she treats, has led to extraordinary advances in understanding ADTKD, specifically the MUC-1 mutation. She and her team at the Broad Institute have a powerful story of solving a decades-old medical mystery to identify the genetic cause of ADTKD-MUC1 and then translating that discovery into a potential treatment. This is more than just science; it's a testament to hope and the relentless pursuit of a treatment for ADTKD. For a full account of this medical breakthrough and to hear Dr. Greka's own words on the power of combining patient care with cutting-edge research, be sure to watch her detailed video on "Molecular Sleuthing for Rare Diseases." What it here: https://lnkd.in/g_zyJz54
How Dr. Anna Greka solved a rare kidney disease mystery
More Relevant Posts
-
ARPA-H’s THRIVE program is now accepting proposals to help make one-time genetic cures a reality (and affordable) for rare diseases, including under-recognized conditions like Lipedema. The program supports bold, translational work with scalable platforms that reach people where they are, through virtual care and regional treatment centers. If your research intersects with fat biology, lymphatics, or connective tissue disease, consider this funding opportunity. 🗓 Solution Summary due: October 31 🗓 Full Proposal due: December 19 🔗 https://lnkd.in/eDwEHZwF
To view or add a comment, sign in
-
Maria Cristina Conti Bellocchi and colleagues detail the "Impact of EUS-guided fine-needle biopsy sampling on International Consensus Diagnostic Criteria for diagnosing autoimmune pancreatitis: a prospective multicenter study." Find the article at https://lnkd.in/gyFsNHce. Also read the editorial by Timothy B. Gardner, "Pancreatic biopsy for indeterminate autoimmune pancreatitis: closer to eliminating misdiagnosis."
To view or add a comment, sign in
-
-
52 patients suspected #AutoimmunePancreatitis (AIP), 50 focal, 2 diffuse, underwent #EUS #FNB with end cutting core biopsy needle with only 2 (3.8%) rate of post FNB acute pancreatitis, both mild. Final diagnosis 39 (75%) AIP 6 (11.5%) chronic pancreatitis 7 (13.5%) malignancy High accuracy for confirming (or excluding) AIP, find malignancy, low risk acute pancreatitis, and ability to classify Type 1 versus type 2 AIP. GIE: Gastrointestinal Endoscopy, VideoGIE, and iGIE
Maria Cristina Conti Bellocchi and colleagues detail the "Impact of EUS-guided fine-needle biopsy sampling on International Consensus Diagnostic Criteria for diagnosing autoimmune pancreatitis: a prospective multicenter study." Find the article at https://lnkd.in/gyFsNHce. Also read the editorial by Timothy B. Gardner, "Pancreatic biopsy for indeterminate autoimmune pancreatitis: closer to eliminating misdiagnosis."
To view or add a comment, sign in
-
-
In a new study, Yale School of Medicine Yale School of Medicine researchers unveiled a novel diagnostic method for detecting leptospiral virulence-modifying proteins in the blood and urine of hamsters, an advance that could pave the way for early diagnosis in humans and improved understanding of the tropical disease leptospirosis. Read more ⬇️ https://ow.ly/zbGg50X768N
To view or add a comment, sign in
-
A new scientific paper in Nature further reinforces the critical role of #neuroinflammation in driving #ALS progression and supports the scientific foundation of our lead candidate, COYA-302. This conclusion builds on decades of pioneering work from Dr. Stanley Appel, leading Treg expert and Chair of Coya’s Scientific Advisory Board, whose research established the role of regulatory T cells in #neurodegenerative disease. At Coya, we are proud to advance this science through our ongoing ALSTARS Phase 2 trial of COYA-302, a novel Treg immunomodulatory therapy designed to restore immune balance and slow disease progression in patients with ALS. Read the scientific paper here: https://lnkd.in/dTwB-wWu $COYA #EndALS
To view or add a comment, sign in
-
-
Meet with Andrea O'Hara, Ph.D. and nRichDX at #ASHG25 (10/16 2:30PM ET) to learn about "cfRNA Cryptic Intron Identification from Liquid Biopsy Samples". Quick summary of the poster session below 👇 Amyotrophic lateral sclerosis (ALS) is a rare, terminal neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. Cell-free nucleic acids can be used as robust biomarkers to determine disease development and progression, with liquid biopsy being an efficient method to detect specific cfRNA. Specifically, cfRNA can be utilized to detect cryptic introns: an intron that is not spliced out and is released into the blood stream in patients with ALS. Learn more and explore our other activities at ASHG: https://hubs.ly/Q03Ngc150 Azenta Life Sciences #LiquidBiopsy #Intron #ALS #GWZASHG
To view or add a comment, sign in
-
This week some of our team Huw Davies Ben Constant, PhD have been at UEG - United European Gastroenterology Week to discuss the potential of breath-based analysis in gastrointestinal health and its links to other disease areas. During the course of the conference, we presented a case study in the poster session on systemic lupus erythematosus (SLE) that demonstrates this potential: breath VOC profiles revealed microbial signatures consistent with dysbiosis and markers of gut barrier integrity. Thank you to University of Milan team for conducting this research alongside our team. You can view the poster and watch a short presentation of the work here: https://bit.ly/3IWKmox
To view or add a comment, sign in
-
-
New Study Strengthens the Case for Targeting CCL24 in Fibrosis — Now Including the Heart. It's exciting to see growing independent validation of the importance of the CCL24 pathway across multiple fibro-inflammatory conditions. A new publication highlights the role of CCL24 in driving cardiac fibrosis, further strengthening the mechanistic rationale for targeting this chemokine in diseases where inflammation and fibrosis intersect. At Chemomab, we’ve long believed that CCL24 is a central regulator of fibrogenic pathways — now supported by data from liver, lung, skin, and heart models alike. These findings continue to reinforce the broad therapeutic potential of nebokitug (CM-101), our first-in-class monoclonal antibody that inhibits CCL24. To read the editorial see https://lnkd.in/emqgdFuf
To view or add a comment, sign in
-
The growing body of evidence around #CCL24’s role in fibro-inflammatory diseases, now extended to the heart, continues to validate the pioneering work that led to Chemomab Therapeutics’ founding. From the early discovery of #CCL24’s involvement in atherosclerosis to today’s broad mechanistic understanding of the #fibrosis—#inflammation vicious cycle, it’s rewarding to see this pathway gaining recognition as a key therapeutic target across multiple organ systems. This is particularly meaningful for us at Chemomab Therapeutics , where our work in primary sclerosing cholangitis (#PSC), including positive results from our Phase 2 trial, continues to demonstrate the clinical relevance and promise of #Nebokitug targeting #CCL24.
New Study Strengthens the Case for Targeting CCL24 in Fibrosis — Now Including the Heart. It's exciting to see growing independent validation of the importance of the CCL24 pathway across multiple fibro-inflammatory conditions. A new publication highlights the role of CCL24 in driving cardiac fibrosis, further strengthening the mechanistic rationale for targeting this chemokine in diseases where inflammation and fibrosis intersect. At Chemomab, we’ve long believed that CCL24 is a central regulator of fibrogenic pathways — now supported by data from liver, lung, skin, and heart models alike. These findings continue to reinforce the broad therapeutic potential of nebokitug (CM-101), our first-in-class monoclonal antibody that inhibits CCL24. To read the editorial see https://lnkd.in/emqgdFuf
To view or add a comment, sign in
-
📌 Daily highlights from the world of longevity and healthspan: Manifold Bio and Roche are teaming up in a $2bn collaboration to unlock next-gen brain shuttles for neurodegenerative disease treatments. New research from Tongji University uncovers the molecular tweaks behind the naked mole-rat’s remarkable resistance to aging. Life Biosciences welcomes industry leader David Guyer MD to its Board of Directors, strengthening its mission to advance longevity-focused therapeutics. Reborne Longevity brings together cutting-edge diagnostics, advanced therapies, and surgical excellence – all within London’s most exclusive medical club. 🔔 Keep up with the latest in longevity, every day. Check out all the latest news on our website. Link as first comment.
To view or add a comment, sign in
-
Explore related topics
Explore content categories
- Career
- Productivity
- Finance
- Soft Skills & Emotional Intelligence
- Project Management
- Education
- Technology
- Leadership
- Ecommerce
- User Experience
- Recruitment & HR
- Customer Experience
- Real Estate
- Marketing
- Sales
- Retail & Merchandising
- Science
- Supply Chain Management
- Future Of Work
- Consulting
- Writing
- Economics
- Artificial Intelligence
- Employee Experience
- Workplace Trends
- Fundraising
- Networking
- Corporate Social Responsibility
- Negotiation
- Communication
- Engineering
- Hospitality & Tourism
- Business Strategy
- Change Management
- Organizational Culture
- Design
- Innovation
- Event Planning
- Training & Development
Great to see this write-up on you, Anna! Kudos to you for your persistence and tenacity!