Genetic Alliance UK’s Post

I'm delighted to share our latest article focusing on NAFLD & Atherosclerosis. 🔎Our research has revealed that there's no significant histopathological association between Non-alcoholic Fatty Liver Disease (NAFLD) and coronary artery atherosclerosis grade. Explore the latest findings from our study titled 'The Histopathological Association of Non-alcoholic Fatty Liver Disease With Coronary Artery Atherosclerosis Grade.' https://lnkd.in/dGcFvCTc

Specialized Protein TFEB May be Key to Understanding LAM Hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) causes disease in several organs, including the lungs (lymphangioleiomyomatosis, or LAM) and kidneys (angiomyolipomas). A new study by Nicola Alesi, MD, PhD, and Elizabeth P. Henske, MD, found that TFEB, a specialized protein, may control mTORC1 activity. This challenges researchers' understanding of why mTORC1 is active in LAM and TSC. Click the link below for more details. https://bit.ly/4cKVH55

I am excited to share that a preprint of our manuscript, focused on adjusting for inter-individual variability in general levels of brain-derived proteins in CSF, is now available on MedRxiv! Our study demonstrates that this adjustment significantly enhances the ability of CSF proteins to distinguish between neurodegenerative and healthy conditions. Additionally, we provide a cross-disease comparison of the measured protein profiles, underscoring the broad disease-unspecific nature of the protein alterations and highlighting the necessity for more cross-disease designs in diagnostic biomarker discovery. If you're interested, you can explore our findings here:

Did you know that globally, 300 million people are living with a rare disease? Rare diseases are characterized as a disease affecting fewer than 1 in 2,000 people, and rare diseases often have few, if any treatments available. However, recent advancements in RNA medicine are helping change this. As a global specialist in nucleic acid raw materials and CDMO services, we're passionate about highlighting the incredible advancements in treating rare diseases using RNA medicines and accelerating their path to market. Learn more about this important day below: https://loom.ly/4hqRrFo #RareDisease #RareDiseaseDay #mRNA

Today is Rare Disease Day, a day to raise awareness and support for the millions of people living with rare diseases. Rare diseases are often complex and challenging to diagnose, treat, and monitor. That’s why PBL Assay Science is here to support researchers working in this area, whether it is scientific consultation related to monitor disease progression with various protein biomarker tools or biomarker assay development for these unique and rare targets. With decades of experience and being a forefront of biomarker research, we are here to help. Let’s show our stripes and stand together for rare disease patients and their families. #ShowYourStripes #rarediseaseday #PBLAssayScience #biomarkers

This UB-led study is probing the role of macrophages, a type of white blood cell, in developing pulmonary fibrosis, potentially opening a path to develop more effective medicine and therapies for the disease that effects roughly 100,000 people in the United States. “Our understanding of how pulmonary fibrosis develops has greatly improved; however, there is still much we do not understand, especially the involvement of immune cells in the formation of the disease,” says the study’s corresponding author, #UBBME's Ruogang Zhao. Learn more about the study here: https://lnkd.in/evtFxRFv #UBuffalo #UBSEAS

A research team in Manchester have discovered that kidney genes may lead to high blood pressure, and that cells found in the urine could help early detection of kidney disease. In new results, researchers at the University of Manchester, led by Professor Maciej Tomaszewski, have found 399 kidney genes that are linked to high blood pressure and that kidney cells in urine are an important, non-invasive source of information about these genes. Read the full research story here: https://bit.ly/4eyE4Wl What would this new finding mean to you?

New Study, New Findings! Discover the power of MBST therapy! 🤩 Studies show it affects how cells produce energy and manage their internal clocks, turning them on and off based on treatment timing. This has huge potential for treating various diseases! MBST could also boost immune responses by altering key genes and proteins. Ready to experience the benefits? If you would like a copy of the new study, please DM us and we can send it directly to you. 📲

May is Cystic Fibrosis (CF) Awareness Month. Cystic Fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. An estimated 105,000 people worldwide are living with CF, and the disease impacts people of all ages, genders, races, and ethnicities. We are proud to serve CF patients with innovative therapies and custom, holistic treatment plans. This year’s theme is “Resilient.” Read patient stories and learn more about CF here: https://lnkd.in/eFPWyz2F. #CFAwarenessMonth #cysticfibrosis

In response to an urgent need for effective #Parkinsons markers, researchers recently unveiled a homebrew assay for FABP2. With its potential role in the pathogenesis of synucleinopathies, FABP2 offers insights into disease progression. #ParkinsonsAwarenessMonth