Neurotech International Ltd’s Post

🧬 Happy to Share our Latest Review Paper on Gene Therapy for Inborn Errors of Immunity 🧬 I am excited to share our latest review paper, co-authored with Prof. Raz Somech and Dr. Ido Somekh, on the evolution and advancements in gene therapy (GT) for inborn errors of immunity, published in JAMA Pediatrics. Key Highlights: - Inborn Errors of Immunity (IEIs): Over 500 monogenic defects leading to severe infections, autoimmunity, and lymphoproliferation. - Traditional Treatments: Hematopoietic stem cell transplants (HSCT) are effective but come with risks. - Gene Therapy Breakthroughs: - Gene Addition (GA): Successful trials using γ-retroviral and lentiviral vectors for conditions like SCID and Wiskott-Aldrich syndrome. - Genome Editing (GE): CRISPR-Cas9 and other advanced techniques offering precise, regulated gene correction. - Challenges & Future Directions: Addressing safety, accessibility, and financial barriers to broaden the impact of GT. Our paper delves into the transformative potential of GT and GE, providing a comprehensive overview of current methodologies, clinical applications, and future trajectories in treating IEIs. 🔗 Read the attached full article here. A special thanks to my co-authors Prof. Raz Somech and Dr. Ido Somekh and supporters, including the Jeffrey Modell Foundation , Israel Science Foundation, Bar-Ilan University, Tel Aviv University,  Sheba Medical Center, Tel Hashomer. #GeneTherapy #Immunology #CRISPR #MedicalResearch #HealthcareInnovation #Pediatrics #RareDisease #InbornErrorsOfImmunity #SCID

#traumaticbraininjury #nanocarriers #basicresearch Advantages of nanocarriers for basic research in the field of traumatic brain injury https://lnkd.in/g8et8Dx4 A major challenge for the efficient treatment of traumatic brain injury is the need for therapeutic molecules to cross the blood-brain barrier to enter and accumulate in brain tissue. To overcome this problem, researchers have begun to focus on nanocarriers and other brain-targeting drug delivery systems. In this review, we summarize the epidemiology, basic pathophysiology, current clinical treatment, the establishment of models, and the evaluation indicators that are commonly used for traumatic brain injury. We also report the current status of traumatic brain injury when treated with nanocarriers such as liposomes and vesicles. Nanocarriers can overcome a variety of key biological barriers, improve drug bioavailability, increase intracellular penetration and retention time, achieve drug enrichment, control drug release, and achieve brain-targeting drug delivery. However, the application of nanocarriers remains in the basic research stage and has yet to be fully translated to the clinic.

📃Scientific paper: Neurofilament accumulations in amyotrophic lateral sclerosis patients’ motor neurons impair axonal initial segment integrity Abstract: Amyotrophic lateral sclerosis (ALS) is the most common motor neuron (MN) disease in adults with no curative treatment. Neurofilament (NF) level in patient’ fluids have recently emerged as the prime biomarker of ALS disease progression, while NF accumulation in MNs of patients is the oldest and one of the best pathological hallmarks. However, the way NF accumulations could lead to MN degeneration remains unknown. To assess NF accumulations and study the impact on MNs, we compared MNs derived from induced pluripotent stem cells (iPSC) of patients carrying mutations in C9orf72 , SOD1 and TARDBP genes, the three main ALS genetic causes. We show that in all mutant MNs, light NF (NF-L) chains rapidly accumulate in MN soma, while the phosphorylated heavy/medium NF (pNF-M/H) chains pile up in axonal proximal regions of only C9orf72 and SOD1 MNs. Excitability abnormalities were also only observed in these latter MNs. We demonstrate that the integrity of the MN axonal initial segment (AIS), the region of action potential initiation and responsible for maintaining axonal integrity, is impaired in the presence of pNF-M/H accumulations in C9orf72 and SOD1 MNs. We establish a strong correlation between these pNF-M/H accumulations, an AIS distal shift, increased axonal calibers and modified repartition of sodium channels. The results expand our understanding of how NF accumulation could dysregulate components of the axonal cytoskeleton and disrupt MN homeostasis. With recent cumu... Continued on ES/IODE ➡️ https://etcse.fr/OAK4H ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you. #amyotrophiclateralsclerosis #als #charcot

The article discusses a new Points to Consider statement released by the American College of Medical Genetics and Genomics (ACMG) regarding the clinical utility of polygenic risk scores (PRS) for embryo selection during in vitro fertilization (IVF). The statement highlights that while PRS testing for common disorders like diabetes, cardiovascular disease, and cancer is being offered commercially, there is currently insufficient evidence to support its clinical utility. The ACMG recommends that further research and longitudinal studies be conducted before PRS analysis for embryo screening can be responsibly offered, as the risks of harm to the prospective parent or future child currently outweigh the benefits. The statement also suggests that broader social, ethical, and regulatory issues surrounding preimplantation genetic testing for polygenic disorders (PGT-P) need to be addressed. #polygenicriskscores #embryoselection #genetictesting #clinicalutility #healthcare #research #medicine #obstetricsandgynecology

New #Study Identifies Potential Target for #Alzheimer's #Disease #Treatment #Researchers from the University of #Leeds and #Lancaster #University have identified the #enzyme PDE4B as a potential target for Alzheimer's disease (AD) treatment. Their study in mice showed that reducing PDE4B #activity protected against AD #pathology, improving memory, #glucose metabolism, and reducing #inflammation in the brain. These findings offer #promising avenues for the #development of novel AD #therapies #targeting PDE4B. #Ariti #pharmaceuticals #health #healthcare #people #peoplefirst #neurology #medical #patient #patientcare #nextohuman Read more: https://lnkd.in/drVdjiNh

A new study, published in Cell Reports Medicine by #BGI-Research, the University of Chinese Academy of Sciences, and Tianjin Women and Children's Health Center, advances early diagnosis and treatment of Gestational Diabetes Mellitus (GDM) using cell-free DNA (cfDNA) analysis. Researchers analyzed cfDNA from 299 GDM patients and 299 healthy pregnant women, revealing distinct cfDNA fragment characteristics linked to GDM. Integrating lipidomics and single-cell transcriptomics, the study identified potential biomarkers like the PRSS1 gene and developed a predictive model based on neural networks. This model has been validated and shows promise for early GDM diagnosis. Read more: https://bit.ly/3SrFclX

A recent study uncovers changes in the immune system's epigenetics in the blood of individuals with Alzheimer's disease, hinting that external factors such as environment or behavior may impact the risk of developing Alzheimer's. The research suggests that these alterations in epigenetics affect genes linked to susceptibility to Alzheimer's, possibly influenced by factors such as viral infections or pollutants. #alzheimers #immunesystem #northwesternuniversity #neuroscience #biotech #pharma https://lnkd.in/eEhwC4Jp

The document discusses an interview with Dr. Catherine Brownstein, an Assistant Professor at Harvard Medical School and an investigator at Boston Children's Hospital. Dr. Brownstein's research focuses on elucidating the genetic basis of rare pediatric disorders and genetic conditions that disproportionately affect women. The interview covers several key points: 1. Dr. Brownstein's presentation at SLAS 2024 highlighted the use of long-read sequencing (LRS) technology to overcome the limitations of next-generation sequencing (NGS) in detecting structurally complex genetic loci associated with rare diseases. 2. The importance of the "ruling out" process in the diagnostic odyssey and the role of multi-omics approaches in providing a comprehensive view of a patient's genetic landscape. 3. The benefits of centralized capabilities and user-friendly services offered by the Molecular Genetics Core Facility at Boston Children's Hospital, which enhance research and diagnostic outcomes. 4. Examples of how multi-omic profiling has been pivotal in uncovering novel disease genes and pathways in Dr. Brownstein's research. 5. Emerging technologies, such as single-cell sequencing, spatial transcriptomics, and CRISPR-based genome editing, that hold promise for advancing the diagnosis and understanding of rare diseases. 6. Advice for young scientists interested in pursuing a career in genetics and genomics, emphasizing the importance of cultivating a strong foundation in both biological sciences and computational methods. #clinicalgenetics #humangenetics #medicalgenetics #multiomics #pediatric #personalizedmedicine #precisionmedicine #rarediseases

Introducing our #DidYouKnow? Series: Bringing you breakthroughs in #CellandGeneTherapy each week! 📊 We’re excited to launch this series at BioCentriq, where we spotlight fascinating updates and groundbreaking milestones in the #CGT sector. This Week’s Highlight: September is Sickle Cell Disease #AwarenessMonth 🩺, a time to raise awareness of this inherited blood disorder affecting millions worldwide. #SickleCell disease leads to severe complications due to the sickling of red blood cells, resulting in pain crises, organ damage, and reduced life expectancy. As a reminder, the FDA has approved the first two gene therapies for sickle cell disease: #Casgevy (aducel-cel), a cell-based gene therapy, and #Lyfgenia (lovotibeglogene autotemcel), also a cell-based gene therapy. Casgevy involves modifying a patient's own cells to produce healthy red blood cells, while Lyfgenia adds a functional copy of the beta-globin gene to enhance red blood cell production. These therapies represent a significant shift in treatment, addressing the underlying genetic causes of the disease. Why is this important? Historically, treatments for Sickle Cell disease have focused on managing symptoms. With the approval of Casgevy and Lyfgenia, there is now a #groundbreaking opportunity to target the disease at its source, offering new #Hope for patients affected by this challenging condition. At BioCentriq, we're committed to leading these breakthroughs as we advance #innovative therapies and collaborate with industry leaders to drive life-changing solutions in #CellTherapy. 🔗 Read more about this milestone here: https://lnkd.in/gBE9jEFp #SickleCell #Innovation #BioCentriq #Pediatrics #PatientCare #FDAApproval #HealthAdvances #Biotech #PioneeringCare

💎💎💎Whatsapp!! 💎💎💎Multiple Sclerosis & Myelin Sheath #Myelin #Sheath Damage Mediated by Epigenetic #Remedy in #Multiple #Sclerosis Despite being one of the most common and well-known #neurodegenerative #diseases, multiple sclerosis ( #MS) remains difficult to treat. However, new research from scientists at Cincinnati Children’s Hospital Medical Center and elsewhere points to a #potential #therapeutic approach that appears to overcome difficulties faced by other attempts. Their work is described in a new Cell paper titled, “#Small_molecule_induced epigenetic rejuvenation promotes SREBP condensation and overcomes barriers to #CNS myelin regeneration.” According to the paper, the researchers treated mouse models of multiple sclerosis and myelin #organoids with an inhibitor molecule called epigenetic-silencing-inhibitor-1 (ESI1) that appears to improve both myelin production and poor #cognitive function associated with MS and similar #demyelinating diseases. It works at the epigenetic level to essentially restart myelin production by #oligodendrocytes present in the MS lesions... ➡ 💎 You can find more pieces of work by clicking here. https://lnkd.in/eSG67K5G https://lnkd.in/dB3s88ei #Myelin #Sheath #Epigenetic #Remedy #Multiple #Sclerosis #neurodegenerative #diseases #multiple_sclerosis ( #MS)