Having 35 copies of the CAG triplet in the gene that causes Huntington’s disease is not a problem. Inheriting 40 could be a sign that goes unnoticed for decades, until reaching 80. From there, the process accelerates and neural death occurs when reaching 150 repeats. Huntington’s disease neurodegeneration is not determined by what, but by how much, according to a study conducted at the Broad Institute.
CTNNB1 syndrome is a neurodevelopmental disorder characterized by intellectual disability, global developmental delay, microcephaly and motor disabilities, among others, caused by pathogenic loss-of-function variants in the CTNNB1 gene, which encodes β-catenin. This syndrome has no treatment option, with only supportive care available. To address this unmet medical need, researchers from the Broad Institute and Tufts University School of Biomedical Sciences have developed a Ctnnb1 germline heterozygote murine model that mimics the human CTNNB1 syndrome.
Researchers from Broad Institute and Harvard University presented the discovery of all-in-one virus-like particles (VLPs) designed to deliver prime editor (PE) ribonucleoprotein (RNP) complexes into mammalian cells.
It is well known that mutations in the cystic fibrosis transmembrane regulator (CFTR) gene are causative of cystic fibrosis, a lethal autosomal recessive Mendelian disorder. Several studies have also pointed to an association between CFTR mutations and inflammatory bowel disease (IBD).
Current therapies based on immune checkpoint blockade are effective and offer a valid option for treatment, but many patients develop either primary or acquired resistance to treatment. Previous research has shown that the deletion of protein tyrosine phosphatases PTPN2 and PTPN1 results in an increase in the sensitization of tumor cells and the promotion of antitumor immunity.
The Broad Institute of MIT and Harvard has announced a new research alliance with Novo Nordisk A/S in diabetes and cardiometabolic diseases. The collaboration will focus on advancing three programs over the next 3 years.
A proof of concept of ex vivo genetic modification of cells from patients and their transplantation in mice has demonstrated, for the first time, the therapeutic possibilities of prime editing in sickle cell disease (SCD).
A base-by-base comparison of the genome sequences of 240 species of mammals has pinpointed sites in the human genome where mutations are likely to cause disease. The sites are all perfectly conserved across the mammalian family tree over 100 million years of evolution, indicating they underlie fundamental biological processes that do not tolerate diversity or change very well.
A base-by-base comparison of the genome sequences of 240 species of mammals has pinpointed sites in the human genome where mutations are likely to cause disease. The sites are all perfectly conserved across the mammalian family tree over 100 million years of evolution, indicating they underlie fundamental biological processes that do not tolerate diversity or change very well.
