Colombia, MO, USA — Duchenne muscular dystrophy (DMD) is a rare but devastating genetic disorder that causes muscle loss and physical impairments. Researchers at the University of Missouri School of Medicine have shown in a mouse study that the powerful gene editing technique known as CRISPR may provide the means for lifelong correction of the genetic mutation responsible for the disorder.
News & Commentaries
Finland — A study carried out with a new human stem cell-derived model reveals that the most prevalent genetic risk factor of Alzheimer’s disease (AD), apolipoprotein E4 (APOE4), impairs the function of human brain immune cells, microglia. These findings pave the way for new, effective treatment approaches for AD. The results were published in Stem Cell Reports.
Leuven, Belgium – Vincent Pasque and his team at KU Leuven have unravelled parts of a mechanism that may one day help to treat Rett syndrome and other genetic disorders linked to the X chromosome. Women and most female mammals have two X chromosomes, but only one of these is active in any given cell. This active X chromosome is selected through a flip-of-the-coin process in the very early stages of embryonic development: each chromosome has a 50/50 chance of remaining active and getting to express its genes, or to be inactivated through a process called X chromosome inactivation.
Toronto, Canada – Males are straightforward while females are complicated. This false dichotomy prompted a decades-long exclusion of female animals from research out of fear that their fluctuating hormone levels will muddle the data. But now a new study by Toronto scientists shows that a female sex hormone plays a key role in promoting brain repair and opens the door to the development of more effective treatments.A team of researchers led by Cindi Morshead, a professor in the Donnelly Centre for Cellular and Biomolecular Research, found that metformin, a widely prescribed drug to treat diabetes, promotes repair in adult female brains and is dependent on the sex hormone estradiol.
San Franciso, CA, USA – UCSF Benioff Children’s Hospitals have successfully treated a months-old infant with a rare childhood leukemia using a targeted therapy approved for adults with inoperable liver cancer and advanced kidney cancer. The decision to use the drug, sorafenib, was made after pathologists identified a unique mutation in the form of two genes being fused together instead of on separate chromosomes – according to a case study publishing in the journal Leukemia on Sept. 11, 2019
College Park, MD, USA – University of Maryland researchers have discovered that seemingly identical cells can use different protein molecules to carry out the same function in an important cellular process. The scientists named this newly discovered variability “functional mosaicism,” and it has significant implications for the development of therapeutic treatments, which are often designed to target a specific molecule, or a gene that produces a specific molecule.
Joensuu, Finland – The expression of many genes that have previously been associated with autism is abnormal also in violent psychopathy, a new study shows. The researchers used stem cell technology to analyze the expression of genes and proteins in the brain cells of psychopathic violent offenders. Published in Molecular Psychiatry, the findings may open up new avenues for the treatment of psychopathy. The study was carried out in collaboration between the University of Eastern Finland, the University of Helsinki and Karolinska Institutet in Sweden.
Basel, Switzerland – Scientists from Basel have investigated the activity of stem cells in the brain of mice and discovered a key mechanism that controls cell proliferation. According to the researchers, the gene regulator Id4 controls whether stem cells remain in a state of rest or enter cell division. The results were published in em>Cell Reports and may be relevant for treating neurodegenerative disease in human brains.
Chicago, IL, USA – The development of new bone can be a multistep process: first, stem cells differentiate into cartilage cells. Next, the cartilage cells become bone cells. But that's not all: the cells must experience some mechanical stresses during the transformation in order to transform efficiently from stem cells to bone cells. Researchers at the University of Illinois at Chicago, in collaboration with colleagues at the University of Pennsylvania and Case Western University, have been working on a unique system that delivers stem cells to sites of bone defects and uses flexible fixators – pins and rods that are used to hold bones together – to provide tunable amounts of mechanical stress.
Toronto, Canada – Our body makes antibodies to fight infections. But the synthetic versions of these molecules could hold the key to stimulating the body's ability to regenerate.
The findings come from a decade-long collaboration between the teams of Sachdev Sidhu, a professor in the Donnelly Centre for Cellular and Biomolecular Research, and Stephane Angers, Associate Dean of Research in the Leslie Dan Faculty of Pharmacy, that have been creating synthetic antibodies for diverse applications.