Personalized mRNA Therapy Shows Promise in Rett Syndrome
Recently, Grann Pharmaceuticals announced the development of a personalized experimental treatment, RTT-1 (Eleanor), for a young girl named Eleanor Elnekaveh, who has Rett Syndrome. This marks a significant step forward in the world of individualized medicine for rare neurological disorders. What is Rett Syndrome? Rett Syndrome is a severe, progressive neurodevelopmental disorder that primarily affects […]
Research Models for O-GlcNAc Transferase Congenital Disorder of Glycosylation (OGT-CDG)
Disclaimer: the following is Google Gemini Deep Research-generated text, not checked by research professionals. Use with caution. References are provided in the end of the post. If anything needs to be changed or removed – please contact Andrey Skripkin I. Introduction to OGT-CDG and the Importance of Research Models A. OGT-CDG/OGT-XLID Overview O-GlcNAc Transferase Congenital […]
OGT Conference 2024 Results
The OGT Conference 2024, held on November 9, brought together leading scientists, clinicians, and families affected by OGT-XLID (OGT-CDG) to discuss the latest advancements in research and explore pathways toward treatment. The event, organized by Cure OGT, served as a critical milestone in uniting the research community around this rare and complex disorder. OGT-XLID is […]
The Promise of Emerging AAV Technologies for OGT-XLID Gene Therapy
Gene therapy using adeno-associated viruses (AAVs) has shown significant promise in treating various genetic disorders. However, traditional AAV capsids, such as AAV9, face limitations, especially for larger genes like OGT, the gene implicated in OGT-XLID (aka OGT-CDG). For families and researchers working towards finding a treatment for OGT-XLID, it is crucial to explore advanced AAV […]
Grace Science, LLC Selected by FDA to Participate in the START Pilot Program for GS-100 Gene Therapy for NGLY1 Deficiency and Announcement of the Successful Treatment of the 2nd Patient
Grace Science, LLC Selected by FDA to Participate in the START Pilot Program for GS-100 Gene Therapy for NGLY1 Deficiency and Announcement of the Successful Treatment of the 2nd Patient Grace Science, LLC announced today that the IND for GS-100, an AAV9 gene therapy for NGLY1 Deficiency, was accepted into the FDA’s Support for clinical […]
New Research Paper: A Novel Mouse Model Sheds Light on OGT-CDG Pathophysiology
Latest work of Daan van Aalten Lab at Molecular Biology & Genetics – Aarhus University by Florence Authier, PhD, Andrew Ferenbach in collaboration with Nina Ondruskova and Alison McNeilly (dundee) on trying to understand the mechanisms underpinning O-GlcNAc transferase X-linked intellectual disability (aka OGT-CDG).
CAD mutations and uridine-responsive epileptic encephalopathy
Abstract Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing […]
Massively targeted evaluation of therapeutic CRISPR off-targets in cells
Abstract Methods for sensitive and high-throughput evaluation of CRISPR RNA-guided nucleases (RGNs) off-targets (OTs) are essential for advancing RGN-based gene therapies. Here we report SURRO-seq for simultaneously evaluating thousands of therapeutic RGN OTs in cells. SURRO-seq captures RGN-induced indels in cells by pooled lentiviral OTs libraries and deep sequencing, an approach comparable and complementary to […]
The first human trial of CRISPR-based cell therapy clears safety concerns as new treatment for late-stage lung cancer
In a study recently published in Nature Medicine, Lu et al. examined the feasibility and safety of using CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)-engineered, patient-derived T cells to treat late-stage lung cancer.
CRISPR: Implications for materials science
The latest possibilities for editing DNA with pinpoint accuracy are transforming.