AEPMI Asociación Mitocondriales’ Post

We’re excited to announce new data from our collaborators at the Institute for Research in Biomedicine and the NeuroCenter of Southern Switzerland of EOC. In a paper published in Nature Scientific Reports (https://lnkd.in/g-cXyyXN), the researchers showed novel mechanisms linking glucocerebrosidase (GCase) dysfunction, lysosomal dysfunction and Tau accumulation to neurodegenerative diseases. The findings provide further scientific validation of therapeutic approaches that address GCase and lysosomal dysfunction for Parkinson’s and other neurodegenerative conditions.    At Gain, we’re tackling GCase and lysosomal dysfunction in neurodegenerative diseases with our clinical-stage candidate GT-02287, a novel GCase-targeting small molecule with disease-modifying potential for the treatment of GBA1 Parkinson’s disease. Learn more at https://lnkd.in/gB_FempR    The research project has been partially financed by Innosuisse – Swiss Innovation Agency in collaboration with Gain Therapeutics. Authors: Piovesan et al. #allostery #lysosomes #clinicalresearch #drugdevelopment #drugdiscovery #neurodegeneration #ParkinsonsDisease #tau #autophagy #innosuisse 

Bellinzona & Bethesda - I am excited and honored to share and co-authour Profs. Paolo Paganetti and Maurizio Molinari labs’ new data published in Nature Scientific Reports (https://lnkd.in/eqWbSvvV), where a novel mechanism linking glucocerebrosidase (GCase), lysosomal dysfunction and Tau accumulation has been shown. The findings continue to support the need for new disease-modifying therapeutic approaches to address lysosomal dysfunction and GCase and for Parkinsons and other neurodegenerative conditions. This work has been partially financed by Innosuisse – Swiss Innovation Agency in collaboration with Gain Therapeutics. #allostery #lysosomes #clinicalresearch #drugdevelopment #drugdiscovery #neurodegeneration #ParkinsonsDisease #tau #autophagy #innosuisse #ganx #gaintherapeutics #stars #irb #eoc #bethesda #bellinzona #ticino

Cardiff University’s Medicines Discovery Institute (MDI) has recently received a grant from Nanion for the SyncroPatch 384 instrument, and the MDI team is now set to accelerate their ion channel research. Prof. John Atack, Helen Waller-Evans, Emyr Loyd-Evans, and Oana Popa plan on using the SyncroPatch 384 to identify high-quality compounds to validate novel ion channel targets, with a focus on lysosomal biology, for subsequent drug discovery. Lysosomal ion channels and transporters are increasingly recognized for their role in the pathology of various neurodegenerative diseases, including Alzheimer’s and Parkinson’s. The research at MDI aims to understand the function of these channels in disease pathology and explore their potential as drug targets. The current project aims to develop novel, selective modulators for lysosomal ion channels to enable further research and potential therapeutic applications. Stay tuned for updates and insights from the Cardiff University MDI team. ➡ Watch the project presentation and learn more about their approach on YouTube: https://lnkd.in/gBJU5ut8 #ionchannels #APC #lysosome

At #ACC24, a groundbreaking innovation in cardiovascular medicine was showcased - #ArtificialIntelligence (AI). Ami Bhatt, the Chief Information Officer at ACC, provided an insightful overview of AI's applications in #CardiovascularDisease, highlighting its use to synthesize large amounts of data to optimize risk prediction and clinical decision-making. Her overview sparked ideas on how AI can optimize and accelerate clinical development in gene therapy for CV and rare diseases. AI can revolutionize the field by identifying optimal candidates for gene therapy, determining the best timing for gene therapy, and informing strategies for managing gene therapy-associated toxicities. Let's explore how we can apply this pioneering innovation to increase the safety and efficacy of gene therapies and get these important new treatments to patients more quickly. #AIinMedicine #genetherapy

Congratulations to Alexandra Piotrowski-Daspit, PhD, Assistant Professor, Biomedical Engineering and Internal Medicine, Pulmonary and Critical Care Medicine Division, on receiving a grant for $220,000 in funding from Emily’s Entourage (EE), an innovative 501(c)3 that accelerates research for new treatments and a cure for the final 10% of people with cystic fibrosis (CF). The grant supports research focused on non-viral nucleic acid delivery to provide more effective treatment options for people with nonsense mutations of CF. The project, titled, “Multi-organ targeted non-viral nucleic acid delivery for CF nonsense mutations,” aims to explore the development of polymeric vehicles to improve the delivery of nucleic acid-based therapeutics to target tissues and cells in the body, primarily the lung and the gastrointestinal system. Read full story: https://lnkd.in/gVC-C7TU

QurAlis would like to congratulate authors Silvia Cantara, Georgia Simoncelli, and Claudia Ricci on the publication of their review paper that provides an up-to-date overview of #ASO research in motor neuron dieases (#MNDs) including #ALS. The paper, published in the International Journal of Molecular Sciences MDPI Sciences, highlights successes and failures, underlines the strengths and limitations of the current ASO research, and suggests possible approaches that could lead to more effective treatments such as #TDP43 and #STATHMIN-2 (#STMN2) in ALS. We wish to thank the authors for noting QurAlis' Phase 1 #ANQUR clinical trial evaluating #QRL-201 - the first-ever study to evaluate a therapy that rescues STMN2 in ALS and could halt disease progression. #precisionmedicine #neurodegenerativediseases https://bit.ly/4b2tYuB

Clinicians with an interest in thrombophilia: Attend our next NBCA Journal Club session! The NBCA Journal Club highlights groundbreaking research in thrombosis and thrombophilia and features a manuscript author as part of the discussion. Our next session convenes June 18, 2024 from 2-3 p.m. ET to discuss, "Antithrombin Therapy: Current State and Future Outlook," published in Clinical and Applied Thrombosis/Hemostasis in 2023. The paper’s author, George M. Rodgers, III, MD, PhD, Professor of Medicine in the Division of Hematology and Hematologic Malignancies at the University of Utah School of Medicine, will join us to discuss his research. The session’s learning objectives: - Understand the genetic and acquired factors contributing to antithrombin (AT) deficiency and its implications. - Explore current treatment strategies for managing AT deficiency. - Identify specific patient populations and use cases where AT therapy may be considered and evaluate its potential benefits. - Investigate advancements and future directions in research, diagnosis, and treatment approaches for AT deficiency to enhance clinical outcomes and patient care. Register: bit.ly/NBCAJournalClub2024 #stoptheclot #nbcajounalclub #bloodclots #thrombophilia #thrombosis #antithrombintherapy #antithrombindeficiency #bloodcloteducation #continuingeducation

Today we are glad to host at Tigem David N. Sheppard, Professor of Physiology at the University of Bristol for an insightful seminar on "Single Channel Studies of CFTR: Rescuing Faulty Channels in Cystic Fibrosis with Targeted Therapeutics" David Sheppard is at the forefront of research into #cysticfibrosis (CF) and the cystic fibrosis transmembrane conductance regulator (CFTR). Dysfunction of CFTR lies at the root of CF, and his work utilizes advanced electrophysiological techniques to delve deep into CFTR's physiological role, the impact of CF mutations, and the action of #smallmolecules in rescuing or bypassing mutant CFTR. 🧬 Cystic fibrosis, a genetic disease, is caused by CFTR dysfunction. Notably, there have been remarkable advancements in CF treatment with orally-bioavailable CFTR modulators, referred to as CFTR correctors and potentiators. These modulators directly target defective CFTR anion channels, revolutionizing CF care. 👁️🗨️ In this presentation, we'll first examine how the prevalent CF-causing CFTR variant, F508del, disrupts CFTR's plasma membrane expression, stability, and function. Then, we'll delve into the fascinating world of single-channel studies, revealing how the triple combination therapy elexacaftor-tezacaftor-ivacaftor rescues the F508del-CFTR chloride channel. #CysticFibrosisResearch #CFTR #Seminar #MedicalScience #ResearchUpdate #geneticdisorders

#recentpublication Clonal Hematopoiesis is associated with worse heart function and prognosis in patients with HFpEF, and a murine experimental model of Tet2-mediated CH displays greater features of HFpEF. #CH #HFpEF #WashU #ErrorCorrectedSequencing #NGS #Genomics #AHA #circulation https://lnkd.in/dN7ZP46w

Clinicians with an interest in thrombophilia: Attend our next NBCA Journal Club session! The NBCA Journal Club highlights groundbreaking research in thrombosis and thrombophilia and features a manuscript author as part of the discussion. Our next session convenes June 18, 2024 from 2-3 p.m. ET to discuss, Antithrombin Therapy: Current State and Future Outlook, published in Clinical and Applied Thrombosis/Hemostasis in 2023. The paper’s author, George M. Rodgers, III, MD, PhD, Professor of Medicine in the Division of Hematology and Hematologic Malignancies at the University of Utah School of Medicine, will join us to discuss his research. The session’s learning objectives: - Understand the genetic and acquired factors contributing to antithrombin (AT) deficiency and its implications. - Explore current treatment strategies for managing AT deficiency. - Identify specific patient populations and use cases where AT therapy may be considered and evaluate its potential benefits. - Investigate advancements and future directions in research, diagnosis, and treatment approaches for AT deficiency to enhance clinical outcomes and patient care. Register: bit.ly/NBCAJournalClub2024 #stoptheclot #nbcajounalclub #bloodclots #thrombophilia #thrombosis #antithrombintherapy #antithrombindeficiency #bloodcloteducation #continuingeducation