Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of--and a treatment for--a previously unknown severe auto inflam-matory syndrome affecting an 18-year-old girl since infancy.
Researchers from Josep Carreras Leukemia Research Institute participate in an international study that confirms for the first time that mutation of the two TP53 gene's copies is associated with a worse prognosis in myelodysplastic syndromes, a group of blood cancers a more frequent in elderly population. The results of this study have been published in Nature Medicine journal and represent an advance in the diagnosis and treatment of this type of hematological cancer.
* Patients with glioma - a very common type of tumour originating in the brain - see improvement in survival rates with combined treatment of radiotherapy plus temozolomide * Researchers found a novel mechanism on how tumours evade chemotherapy through genomic rearrangements of the MGMT DNA repair gene * This finding is potentially relevant for updating the methods used to monitor temozolomide efficacy. Genomic rearrangement could be a marker to be detected in blood samples and help make therapeutic decisions
Michelle Hastings, PhD, director of the Center for Genetic Diseases, is leading an NIH-funded team in the study of a new therapeutic approach for CLN3 Batten disease in children. Study published July 27 in Nature Medicine.
Of the CRISPR-Cas9 tools created to date, base editors have gotten lots of attention because of their seemingly simple editing: they neatly replace one nucleic acid with another, in many cases all that should be needed to fix a genetic disease. UC Berkeley scientists have now determined the structure of the latest base editor as it swaps out nucleic acids, showing why it can go off target but also how it can be improved.
WFIRM researchers have developed an optimized cellular platform for delivering Factor 8 to better treat patients with hemophilia A.
Drug-carrying lipid nanoparticles were created that incorporate neurotranmitters to help them cross the blood-brain barrier in mice. The innovation could overcome many limitations encountered in delivering drugs into the central nervous system.
An international team of scientists has developed a novel genetic measure that could dramatically improve how doctors assess the risk of sustaining a fracture due to osteoporosis or fragility
A group of Japanese scientists has succeeded in the development of modified messenger RNAs (mRNAs) that contain sulfur atoms in the place of oxygen atoms of phosphate moieties of natural mRNAs. They discovered that modified mRNAs accelerated the initiation step of the translation reactions and improved efficiency of protein synthesis by at least 20 times compared with that using natural-form mRNAs.
Cas proteins like CRISPR-Cas9 have great potential for gene therapy to treat human disease and for altering crop genes, but the gene-targeting and gene-cutting Cas proteins are often large and hard to ferry into cells with viral vectors such as adenovirus. UC Berkeley scientists have now discovered a hypercompact Cas protein, CasΦ, that should work better. It is half the size of Cas9 and apparently evolved inside a bacteriophage, yet efficiently snips double-stranded DNA.