International Genetics and Genomics of Diseases

Fruitful innovation: Transforming watermelon genetics with advanced base editors The development of new adenine base editors (ABE) and adenine-to-thymine/ guanine base editors (AKBE) is transforming watermelon genetic engineering. These innovative tools enable precise A:T-to-G and A:T-to-T base substitutions, allowing for targeted genetic modifications. The research highlights the efficiency of these editors in generating specific mutations, such as a flowerless phenotype in ClFT (Y84H) mutant plants. This advancement not only enhances the understanding of gene function but also significantly improves molecular breeding, paving the way for more efficient watermelon crop improvement. Traditional breeding methods for watermelon often face challenges in achieving desired genetic traits efficiently and accurately. While CRISPR/Cas9 has provided a powerful tool for genome editing, its precision and scope are sometimes limited. These limitations highlight the need for more advanced gene-e...

Genetic factors associated with reasons for clinical trial stoppage Many drug discovery projects are started but few progress fully through clinical trials to approval. Previous work has shown that human genetics support for the therapeutic hypothesis increases the chance of trial progression. Here, we applied natural language processing to classify the free-text reasons for 28,561 clinical trials that stopped before their endpoints were met. We then evaluated these classes in light of the underlying evidence for the therapeutic hypothesis and target properties. We found that trials are more likely to stop because of a lack of efficacy in the absence of strong genetic evidence from human populations or genetically modified animal models. Furthermore, certain trials are more likely to stop for safety reasons if the drug target gene is highly constrained in human populations and if the gene is broadly expressed across tissues. These results support the growing use of human genetics to ...

Study finds genetic factors key to post-stroke cardiovascular risks In a recent study published in the journal Stroke , researchers identify genetic and molecular risk factors for subsequent cardiovascular outcomes after incident stroke in an effort to identify potential therapeutic targets to improve patient prognoses. Identifying the causes of stroke Stroke is a major global health issue that causes significant disability and mortality, particularly arterial ischemic stroke (AIS). AIS, which is a type of stroke caused by blocked blood flow to the brain, is responsible for up to 85% of stroke cases. AIS arises due to cerebral blood vessel blockage, with modifiable risk factors including hypertension, diabetes, dyslipidemia, atrial fibrillation, obesity, and lifestyle behaviors. Although genome-wide association studies (GWAS) often focus on incident strokes, studying subsequent events can provide new insights into stroke progression. Further research is crucial to identify genetic and...

Large genetic study on severe COVID-19 Bonn researchers confirm three other genes for increased risk in addition to the known TLR7 gene Whether or not a person becomes seriously ill with COVID-19 depends, among other things, on genetic factors. With this in mind, researchers from the University Hospital Bonn (UKB) and the University of Bonn, in cooperation with other research teams from Germany, the Netherlands, Spain and Italy, investigated a particularly large group of affected individuals. They confirmed the central and already known role of the TLR7 gene in severe courses of the disease in men, but were also able to find evidence for a contribution of the gene in women. In addition, they were able to show that genetic changes in three other genes of the innate immune system contribute to severe COVID-19. The results have now been published in the journal " Human Genetics and Genomics Advances ". Even though the number of severe cases following infection with the SARS-CoV-...

Genetic test eliminates progressive retinal atrophy in English shepherd dogs Researchers at the University of Cambridge recently published their findings in Genes after identifying the genetic mutation that is causing progressive retinal atrophy (PRA) in English shepherd dogs. PRA is a group of inherited diseases causing progressive degeneration of the light sensitive cells within the back of the eyes. When it comes to PRA in dogs, they are born with normal vision but by the age of 4-5 they go totally blind with no treatment. According to the release, by identifying the canines carrying this disease before they lose vision, this can be then used as a tool to guide breeding decisions to prevent the passing of the disease onto puppies.1 Historically, owners did not realize their dog had PRA until they were middle-aged, which means it could have been passed on to puppies if they had bred, making this a hard disease to control. “Once the dog’s eyesight starts to fail there’s no treatment ...

Genetic test could eradicate a type of inherited blindness in dogs A mountain rescue dog whose duties ended after her eyesight failed has helped scientists create a test that could eradicate the genetic eye condition in her breed for good. Shola the English shepherd has an inherited eye disease called progressive retinal atrophy (PRA) that causes the light-sensitive cells at the back of the eye to deteriorate, eventually leading to blindness. PRA affects more than 100 dog breeds, can be caused by a number of different genetic variants and has no treatment. For some types, symptoms do not appear until the dog is several years old , by which point they may have passed their genes on to puppies. Katherine Stanbury, the first author of the research from the University of Cambridge, said Shola was four years old when she began struggling with her vision in dim light. “She was sent to a veterinary ophthalmologist and they confirmed that she had PRA,” said Stanbury. “And then it turned out h...