MaxCyte, Inc.’s Post

The future of cell therapy for autoimmunity has officially begun and it looks bright! Despite Europe's talents and scientific expertise, the number of cell and gene therapy trials in the EU lags behind the USA and the Asian Pacific Area. Perhaps it's time to reassess investments and strategic focus in our continent. #innovation #healthcare #research #Europe #celltherapy

Exploring equitable treatment options for pediatric patients with sickle cell disease Patients with sickle cell disease (SCD) often grapple with diminished quality of life and a reduced life expectancy. The primary curative treatment, allotransplantation, carries risks, including transplant-related mortality. Gene therapy, if approved for SCD, could potentially provide a lifelong cure without the inherent risks associated with allotransplantation. Addressing the need for equitable treatment options for this historically marginalized pediatric patient population in the United States, researchers from Yale Cancer Center conducted a groundbreaking study to assess the cost-effectiveness of allotransplantation therapy and gene therapy. Presented at the American Society for Hematology (ASH) Annual Meeting, the study, led by Dr. George Goshua, revealed that allotransplantation had an incremental cost-effectiveness ratio (ICER) of $138,000 per quality-adjusted life-year (QALY), while gene therapy showed an ICER of $253,000. Despite the apparent expense, both therapeutic strategies met distributional equity standards in the United States. Dr. Goshua, an assistant professor of medicine (Hematology) at Yale School of Medicine, stressed the importance of considering equity in decision-making for pediatric SCD treatment. The researchers aim to contribute transparent benchmarks for stakeholders involved in crucial funding decisions, fostering a more equitable and value-informed approach to pediatric SCD care. Read more: https://lnkd.in/ek827Vh9 #scd #allotransplantation #genetherapy #pediatrichealth #equitablecare #healthresearch #hematologystudy #medicalcosts #diseasemanagement #patientequity

Curious about the evolution of treating inborn errors of immunity? Our VP of Clinical Services, Dr. Heather Stefanski, discussed the rapid advances in diagnosing and treating primary immunodeficiencies, highlighting the life-changing impact of new therapies like ex vivo gene therapy. Discover more about the evolving landscape of treatment and Dr. Stefanski's vision for the future of the field 👉 https://bit.ly/3TRczAs #NMDP #CellAndGeneTherapy #Immunodeficiency

Researchers from China have made a significant breakthrough in treating hypertrophic cardiomyopathy (HCM), a common genetic heart disease that causes thickening of the heart muscle. The team developed a novel gene therapy approach using CRISPR-Cas9 technology to correct the genetic mutation responsible for HCM in mice. The treatment successfully reversed the disease's progression and improved heart function without any adverse effects. This groundbreaking research paves the way for future clinical trials and potential treatment options for patients with HCM, offering hope for those affected by this debilitating condition. #HypertrophicCardiomyopathy #GeneTherapy #CRISPR #HeartDisease #MedicalBreakthrough #GeneticMutation #HeartHealth #MedicalResearch #ClinicalTrials #FutureOfMedicine https://lnkd.in/ehVgMKAQ

Are Disease-Modifying Treatments on the Horizon for Patients With #ARVC? Gene therapy targeting the underlying desmosomal mutation and approaches to prevent myocardial fibrosis independent of the specific genetic defect by increasing cardiac levels of FGF21 may be on the horizon for patients. https://okt.to/mOF1sy

"Messenger RNA are the biggest regulators of pro-inflammatory gene expression, so we developed a strategy to target them.” - Ceria founder, Dr. Ken Liechty   Read more about our research in a microRNA known as miR146a, a regulator of immune function: #ARDS | #lunghealth | #pulmonology

Paper of the Week: This week’s paper by Meuleman et al. published in JASN investigated the role of terminal pathway activation in C3 glomerulopathy, a rare kidney disease caused by overactivation of the complement alternative pathway. In a retrospective analysis of 42 patients, the authors found that 88% of kidney biopsies showed C5b-9 deposits, indicating terminal pathway activation. Patients with high C5b-9 deposits had significantly higher chronicity scores and poorer kidney outcomes. Transcriptomic analysis revealed that one-third of 847 immune-related genes were upregulated in C3 glomerulopathy biopsies compared to controls. Clustering based on gene expression identified a subgroup of biopsies with high C5b-9 deposits that also had enriched immune and fibroblastic signatures. These findings suggest that terminal pathway activation in C3 glomerulopathy is linked to a distinct histological phenotype and worse disease prognosis. Read more at this link! https://lnkd.in/eXDHeyM4

Source: GeneReviews Adenosine deaminase (ADA) deficiency is a genetic disorder that affects lymphocyte development and function. It can present as severe combined immunodeficiency (ADA-SCID) in infants or as delayed or late-onset combined immunodeficiency (ADA-CID) in older children and adults. Newborn screening can detect ADA-SCID before symptoms appear. Treatment options include enzyme replacement therapy, hematopoietic stem cell transplantation, and gene therapy. Surveillance and management strategies are important for monitoring and treating the condition. The disorder is inherited in an autosomal recessive manner, and genetic counseling is available.

I want to share our latest research titled "Broadening the scope of multigene panel analysis for adult epilepsy patients", recently published in Epilepsia Open. Our study demonstrates the value of gene panel sequencing in adult epilepsy patients with a suspected genetic origin. We identified pathogenic or likely pathogenic variants in 13.0% of our patients, with the diagnostic yield being highest in patients with Intellectual Disability/Developmental Disability (ID/DD) and childhood onset of seizures. Additionally, we discovered and described many novel variants and phenotype expansions of epilepsy-related genes in adult patients. Read the full publication here: https://lnkd.in/eRqvj-y4 This article emphasizes the importance of actively implementing genetic panel testing in adult epilepsy patients, underscoring its potential to improve diagnostic accuracy and personalized treatment strategies. #GenePanel #AdultEpilepsy

First-in-human study of a 3-year-old patient with GNAO1 encephalopathy showed significant improvement in motor skills, reduction in seizures, and overall positive outcomes. Mutations in the GNAO1 gene lead to severe pediatric encephalopathy, with pathogenic variants stratifying into 3 classes in their responsiveness to zinc. The finding suggests a new standard of care for GNAO1-related disorders and support the need for further clinical trials. Read full paper free-access in Med by Cell Press. Yonika Arum Larasati Moritz Thiel Alexey Koval Denis Silachev Anne Koy Vladimir Katanaev #GNAO1 #pediatricencephalopathy #neurologicaldisorders #genetics #zincsupplementation #clinicaltrial #openaccess https://lnkd.in/ePCqkjC7