For the first time ever, biomedical researchers from Aarhus University, Denmark, have unveiled cellular defects that lead to the rare disease hereditary angioedema (HAE), where patients experience recurrent episodes of swelling that requires immediate treatment. This new understanding is an important step towards gene therapy for patients.
Chondral defects caused by tumor, trauma, infection, congenital malformations are very common in clinical trials. It seriously affects the patient's physical function and quality of life. Through this review, the researchers aimed to review the progress of the types and preparation techniques of scaffold materials in cartilage tissue engineering.
The largest study of its kind, led by international researchers including scientists at RCSI (Royal College of Surgeons in Ireland), has discovered 11 new genes associated with epilepsy. The research is published in today's issue of Nature Communications. It greatly advances knowledge of the underlying biological causes of epilepsy and may inform the development of new treatments for the condition.
The objective of study was to understand the damages induced by toxins in the liver and the intestine as well as the interplay between the miRNome and transcriptome baseline characterization in these tissues in healthy animals under cellular homeostasis.
A team from the Research Institute of the McGill University Health Centre (RI-MUHC) led by Dr. Donald Vinh, the RI's so-called "Dr. House" because of his research into rare diseases, has discovered a new human disease and the gene responsible for it, paving the way for the proper diagnosis of patients globally and the development of new therapies. Their findings are published in the Journal of Experimental Medicine.
NHGRI researchers have discovered a hormone in a mouse study that can be used immediately to can help doctors predict how severely patients with the rare disease methylmalonic acidemia are affected and when to refer them for liver transplants. The findings, published December 6 in JCI Insight, also might shed light on more common disorders such as fatty liver disease, obesity and diabetes.
Scientists revealed how DNA damage influences mutations. Turned out that its contribution to mutagenesis was underestimated and many of the inheritance mutations are caused not by errors in DNA doubling, but by damage to this fragile molecule. The study was conducted by an international research group and published in Nature Genetics.
Delivering gene-regulating material to cells that live deep in our bone marrow and direct the formation of blood cells. That would be a major step forward in gene therapy and a team of UD researchers has taken that step.
In a piece of research conducted in collaboration, the NanoBioCel group of the UPV/EHU's Faculty of Pharmacy, and the University of Elche have designed some niosomes, which are lipid vesicles for use in gene therapies designed to treat diseases of the central nervous system. One of the new aspects of these vesicles is that lycopene has been used as an element, which has enabled transfection into brain cells to be improved.
Prof. Karen B. Avraham, Vice Dean of the Sackler Faculty of Medicine at Tel Aviv University, has created the first epigenetic map of the inner ear, a milestone discovery that may pave the way for new therapeutic solutions to hearing loss.