Andrey Skripkin

We are excited to announce OGT Conference 2024, the first-ever event dedicated to OGT-XLIC (also known as OGT-CDG). This landmark conference will bring together leading researchers, clinicians, and families to explore and discuss lates research and potential treatments for OGT-XLID. Conference Highlights: Why Attend? Your presence will be invaluable, not only in contributing to the […]

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

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).

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

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

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.

The latest possibilities for editing DNA with pinpoint accuracy are transforming.

Abstract Intellectual disability (ID) is a neurodevelopmental condition that affects ~1% of the world population. In total 5−10% of ID cases are due to variants in genes located on the X chromosome. Recently, variants in OGT have been shown to co-segregate with X-linked intellectual disability (XLID) in multiple families. OGT encodes O-GlcNAc transferase (OGT), an essential enzyme that catalyses

Background: In the demyelinating disease multiple sclerosis (MS), chronic-active brain inflammation, remyelination failure and neurodegeneration remain major issues despite immunotherapy. While B cell depletion and blockade/sequestration of T and B cells potently reduces episodic relapses, they act peripherally to allow persistence of chronic-active brain inflammation and progressive neurological dysfunction. N-acetyglucosamine (GlcNAc) is a triple modulator of