Qinglong Wu’s Post

✳ How can we predict your lifetime risk of a disease from a PRS? ✳ New work in Nature Communications describes a framework for integrating genetic and population data to translate PRSs into estimates of lifetime risk. https://lnkd.in/e5YhNic8 📄 Check out Allelica, Inc's latest blog describing this work and how you can use our clinical PRS to better predict risk of common disease in your patient populations. https://lnkd.in/eCARRqJT

📣 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

We’re all familiar with prediction, we use apps every day to predict how long it will take to get to work or back home. But as a physician, have you considered how many of your patients' lifetime risks of a heart attack you know? How many opportunities to prevent disease and save lives are missed without knowing this fundamental data point? You can read about how lifetime risk is calculated from genetic data in Allelica's latest blog.

Yet another confirmation that preventative, predictive, personalized, and participative is already here. Allelica, Inc is leading the way in powering genetic data with AI and ML to understand the risk of developing serious diseases, allowing preventative actions to reduce the risk of serious events like for cardiovascular infarction. #genetics #digitalmedicine #personalizedmedicine #preventativemedicine #ai

📣 Submissions are open for this new Research Topic led by Francesco Suriano, Claudia Manca, Carol Aherne and Emanuela Ricciotti 👨🔬 👩🔬 This article collection explores the interplay between the intestinal microbiota, mucus layer and the underlying epithelial and immune cells to identify novel therapeutic approaches targeting chronic inflammatory diseases. Explore the collection 🔍 https://lnkd.in/eQiG-VGc Register your interest ✔ https://lnkd.in/eWDRiiAG Submit your manuscript 📜 https://lnkd.in/eJmShjph #gutmicrobiome #microbiota #intestinalbarrier #inflammationpharmacology #researchtopic #openaccess #openaccessjournal

Rare diseases day is celebrated on the last day of February every year. Very fitting that it happens to be on a leap year day this year! In the UK, around 3.5 million people live with a rare disease (defined as a condition that affects less than 2000 people). Typically these diseases take longer to diagnose and are very limited in their treatment options. This week’s blog explores the developments in diagnostics, genomics and data analysis that could transform this rare diseases landscape. #futureofhealth #deloitte #rarediseases

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.

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

ME/CFS Research Published 9 – 15 January 2024 There have been four new ME/CFS studies and twenty-eight new Long Covid studies.  Paper one looks into the metabolic and immune alterations of Long Covid patients meeting the classification criteria for ME/CFS, due to a portion of Long Covid patients having symptoms which meet the diagnostic criteria for ME/CFS. Read more here: https://lnkd.in/etZzXiyC #pwME #MECFS #MyalgicE #MyalgicEncephalomyelitis #LongCovid #PostCovid #Research