Sanofi’s Post

Today is #rarediseaseday, an opportunity to reflect on the ongoing unmet needs of the millions of people living with rare diseases every single day. There are over 7,000 rare diseases, the majority of which have no available treatment options. Over 70% of rare diseases are genetic.   In 2023, the FDA approved 16 new precision medicine enabled therapies for rare disease patients. However, it remains a challenge to diagnose patients and without a diagnosis, they cannot get available and appropriate treatments.   Early genetic testing can help patients get a diagnosis, determine the underlying genetic cause of their disease, and shorten their diagnostic journey. In turn, patients can then determine eligibility for clinical trials and therapies, manage their disease progression, and make life and family planning decisions.   At Johnson & Johnson Innovative Medicine we're working to increase access to genetic testing for rare inherited retinal diseases like X-linked retinitis pigmentosa (XLRP).   Today, on the rarest day of the year, let’s celebrate the rare disease community for whom every day is Rare Disease Day, and keep working toward solutions for all rare disease patients. #showyourstripes

🔍 New Publication Alert! Understanding the Real Prevalence of Interstitial Lung Disease in Rheumatoid Arthritis Patients In the realm of rare diseases, accurately estimating prevalence is a significant challenge. Literature suggests a wide prevalence range for interstitial lung disease associated with Rheumatoid Arthritis (RA) - from 1% to 60%. This vast variability poses real-world difficulties in diagnosis, treatment planning, and resource allocation, impacting patient care and research focus. 📊 Our recent study, published in RMD Open, leverages machine learning and big data to shed light on this issue. By analyzing a cohort of 14,000 RA patients, we've derived reliable real-world data, estimating that this condition affects 1 in every 20 patients. This finding narrows the prevalence gap and provides a clearer target for healthcare providers and researchers. This work was made possible through collaboration with esteemed institutions and colleagues, including various Spanish hospitals, the innovative team at SAVANA Med, and the support of Bristol Myers Squibb (BMS) and Sandra Orta. I extend my heartfelt gratitude to @Jose Andres Roman Ivorra, Ignacio H. Medrano and Diego Benavent Nuñez for their significant contributions and unwavering commitment to this project. 📝 Our findings underscore the power of technology in transforming medical research and patient care. Dive into our publication to explore how big data and machine learning are unveiling the real face of rare disease prevalence: https://lnkd.in/dZ-Gdd8n #RheumatoidArthritis #InterstitialLungDisease #MachineLearning #BigData #MedicalResearch #BMSiberia #HealthcareInnovation #SAVANAMed

🚨 A fascinating scoping review has been produced by the brilliant Pr Raphaèle Seror (MD, PhD) and Yann Nguyen, who aimed to identify outcome domains in primary Sjögren’s disease, conducted along with the OMERACT working group. 🔎 A lot of the work on identifying outcome domains in primary Sjogren’s disease from the scoping review, had been used in the development process of the candidate STAR endpoint (Sjögren's Tool for Assessing Response), the primary objective of NECESSITY Project ☕Take a moment for this interesting and quick read. #Sjogrens #Outcomes #Research #Scoping #Review

Learn and Grow Blog... Biomarkers in Disease Management & Diagnosis... Biomarkers, or biological markers, are measurable indicators of biological processes, pathogenic processes, or pharmacological responses to therapeutic interventions. They originate from diseased organs, such as tumours, or the body's response to various conditions. These markers can be found in blood, tissues, or other bodily fluids and provide crucial information about an individual's state of health or disease. Continue reading it here... https://lnkd.in/g-CXUskJ #agappe #agappeblogs #learandgrow

Putting on my mitochondriac hat and reposting for awareness. If you have an interest in mitochondrial diseases or know someone who does, please comment and/or share! Well vetted common data elements are vital for efficient, rigorous, reproducible, and maximally impactful research. Thanks to National Institute of Neurological Disorders and Stroke (NINDS) and M. Carolina M. for advancing this effort! #mitochondria #mitochondrialdisease #commondataelements #rarediseases

Mitochondriacs in my network (I know I have more than a few!). Take the opportunity to review and comment on the revised National Institute of Neurological Disorders and Stroke (NINDS) Common Data Elements for Mitochondrial Disease (v2.0) before November 15th. This initiative is updating tools to improve data quality and allow for harmonization of data collected in different research studies! This is critical when thinking about maximizing the ability to use clinical research data beyond just the original primary or secondary outcome it was collected for.

The principal reason for applying AI to assess pulmonary vasculature from a CT scan, by differentiating between arterial and venous volume distribution is to uncover new insights into pulmonary vascular disease, underlying disease mechanisms, and treatment response. Emerging studies show that precise phenotyping of the pulmonary vasculature can help identify specific disease subtypes, potentially leading to more informed treatment decisions and more effective patient monitoring. Our expectation is that AV phenotyping will have the most noteworthy benefits in detecting pulmonary hypertension and its subtypes. Read more on AVX - our artery-vein phenotyping algorithm: thirona.eu/avx

📣 Publication alert!!! Just published: Defining disease severity in #atopicdermatitis and #psoriasis for the application to #biomarker research- an interdisciplinary perspective. To expedite discovery and validation, the #BIOMAP_IMI consortium (Biomarkers in #AD and Psoriasis, a large-scale European, interdisciplinary research initiative) has curated #clinical and #molecular #data across diverse study designs and sources including cross-sectional and cohort studies (small scale through to large multi-centre registries), clinical trials, electronic health records and large-scale population-based biobanks. We map all dataset disease severity instruments and measures to three key domains (symptoms, inflammatory activity and disease course), and describe important co-dependencies and relationships across variables and domains. 👉 https://lnkd.in/eCe4brZZ

Learn and Grow Blog... Biomarkers in Disease Management & Diagnosis... Biomarkers, or biological markers, are measurable indicators of biological processes, pathogenic processes, or pharmacological responses to therapeutic interventions. They originate from diseased organs, such as tumours, or the body's response to various conditions. These markers can be found in blood, tissues, or other bodily fluids and provide crucial information about an individual's state of health or disease. Continue reading it here... https://lnkd.in/g7WCQ3XP