International Genetics and Genomics of Diseases

Towards a bioengineered uterus: bioactive sheep uterus scaffolds are effectively recellularized by enzymatic preconditioning Uterine factor infertility was considered incurable until recently when we reported the first successful live birth after uterus transplantation. However, risky donor surgery and immunosuppressive therapy are factors that may be avoided with bioengineering.  For example, transplanted recellularized constructs derived from decellularized tissue restored fertility in rodent models and mandate translational studies. In this study, we decellularized whole sheep uterus with three different protocols using 0.5% sodium dodecyl sulfate, 2% sodium deoxycholate (SDC) or 2% SDC, and 1% Triton X-100. Scaffolds were then assessed for bioactivity using the dorsal root ganglion and chorioallantoic membrane assays, and we found that all the uterus scaffolds exhibited growth factor activity that promoted neurogenesis and angiogenesis. Extensive recellularization optimization ...

WHO and partners announce grants to boost pathogen genomic surveillance The World Health Organization (WHO) and partners announced 10 projects that will receive almost US$ 2 million in grants to improve capacities in pathogen genomic surveillance. The catalytic grant fund was established by the International Pathogen Surveillance Network (IPSN) to support partners from low- and middle-income countries to build their capacities in pathogen genomic analysis. This technology analyses the genetic code of viruses, bacteria and other disease-causing organisms to understand, in conjunction with other data, how easily they spread, and how sick they can make people. This data allows scientists and public health teams to track and respond to infectious disease threats, supports the development of vaccines and treatments and empowers countries to take faster decisions. The fund is hosted by the United Nations Foundation and supported by the Bill & Melinda Gates Foundation, The Rockefeller Fou...

The Maize Gene ZmGLYI-8 Confers Salt and Drought Tolerance in Transgenic Arabidopsis Plants Methylglyoxal (MG), a highly reactive and cytotoxic α-oxoaldehyde compound, can over-accumulate under abiotic stress, consequently injuring plants or even causing death. Glyoxalase I (GLYI), the first enzyme of the glyoxalase pathway, plays multiple roles in the detoxification of MG and in abiotic stress responses. However, the GLY1 gene in maize has been little studied in response to abiotic stress. In this study, we screened a glyoxalase I gene (ZmGLYI-8) and overexpressed in Arabidopsis. This gene was localized in the cytoplasm and can be induced in maize seedlings under multiple stress treatments, including salt, drought, MG, ABA, H2O2 and high temperature stress. Phenotypic analysis revealed that after MG, salt and drought stress treatments, overexpression of ZmGLYI-8 increased the tolerance of transgenic Arabidopsis to MG, salt and drought stress. Furthermore, we demonstrated that the over...

Antibacterial Efficacy of Feline-Derived Lactic Acid Bacteria against Enteropathogenic Escherichia coli: A Comprehensive In Vitro Analysis Introduction Enteropathogenic Escherichia coli (EPEC) is a significant cause of diarrhea in cats, particularly affecting kittens. EPEC leads to severe intestinal damage, resulting in symptoms such as vomiting, lethargy, and dehydration, which can be fatal if untreated. Kittens with EPEC have significantly greater intestinal damage and higher quantities of the pathogen compared to those without diarrhea. Additionally, EPEC is known to cause similar severe diarrheal disease and intestinal damage in other animals, indicating its broad pathogenic potential. Infection with EPEC results in significant fluid and electrolyte losses, exacerbating the risk of dehydration and necessitating medical intervention. This infection poses a substantial economic burden due to the costs of veterinary care, decreased productivity in breeding operations, and emotional di...

Genetic evidence points to distinct Viking settlers of the Faroe Islands and Iceland Geneticists have studied the distribution of Y-chromosome haplogroups on the Faroe Islands, known to have been colonized by Vikings around the year 900 CE, and compared these to distributions of haplogroups in today's Scandinavia. They showed with novel analysis methods that the haplotype distribution in the Faroe Islands most closely resembled that in Norway and Denmark, and to a lesser extent that in Sweden, but differed from that in Iceland. They concluded that a band of Viking men from all over Scandinavia colonized the Faroe Islands, which differed in their geographical origin and genetic make-up from those who settled Iceland. The ancient Vikings certainly had the travel bug. Between the late eighth century and approximately 1050 CE, they roamed the Atlantic in their longships all the way to Newfoundland, Labrador, and Greenland, as well as exploring the Mediterranean and continental Eurasia....

Cancer Genomics Research The Importance of Cancer Genomics Research The study of cancer genomes (all the DNA in cancer cells) has revealed the mind-boggling complexity of genomic changes that drive cancer growth and survival. This knowledge has greatly expanded our understanding of how cancer develops and progresses. Ultimately, it has led to new ways of diagnosing and treating cancer, as well as new ways of identifying those at high risk of developing cancer. In short, genomics research has changed the way we see cancer. Large-scale research projects such as The Cancer Genome Atlas (TCGA), and its pediatric counterpart Therapeutically Applicable Research to Generate Effective Treatments (TARGET), have surveyed and cataloged the genomic changes in multiple types of cancer. The discovery of novel cancer-associated genetic changes has led to an explosion of therapies that target specific changes and tests that identify patients whose cancers harbor those changes—an approach to cancer tre...

Reproductive genetic carrier screening: A tool for reproductive decision-making Couple-based reproductive genetic carrier screening is an accessible and effective method of reproductive decision making, according to a recent study published in the New England Journal of Medicine.1 Childhood-onset autosomal recessive and X-linked conditions have been linked to over 2500 genes, with most parents carrying these genes only learning about their carrier status after childbirth. Reproductive decision making may be improved through the use of reproductive genetic carrier screening. The availability of reproductive genetic carrier screening has been improved by commercial providers, but health care professionals must remain aware about how to best offer screening and how their patients may view this option. This critical information has been detailed by the Australian Reproductive Genetic Carrier Screening Project.2 The project included over 10,000 reproductive couples and provided reproductive...

Novel method goes 'below the limit of quantification' to enhance genetic discovery Research scientist Yosuke Tanigawa and Professor Manolis Kellis at MIT Computer Science and Artificial Intelligence Laboratory (CSAIL) have developed a novel methodology in human genetics to address an often-overlooked problem: how to handle clinical measurements that fall "below the limit of quantification" (BLQ). Published in the American Journal of Human Genetics, their new approach, "hypometric genetics," utilizes these typically discarded measurements to enhance genetic discovery, with significant implications for personalized genomic medicine and drug development. Imagine trying to weigh a feather on a standard bathroom scale. The scale might detect that something is there. However, it will not give an exact measurement value because the feather is too light to be weighed accurately, falling below the scale's sensitivity. In scientific research, measurements that fal...