Hereditary Breast and Ovarian Cancer (HBOC) typically arises from mutations inherited in the germline. BRCA1 and BRCA2 mutaions are predominant contributors to HBOC, accounting for the majority of cases. These mutations are associated with 10% of ovarian cancer cases and 3-5% of breast cancer cases [4]. BRCA1 …

The concept of biodiversity, which usually serves as a shorthand to refer to the diversity of life on Earth at different levels (ecosystems, species, genes), was coined in the 1980s by conservation biologists worried over the degradation of ecosystems and the loss of species, and willing to make a case …

Alzheimer's disease (AD) is the common neurodegenerative disorder and the most frequent cause of dementia. The disease accounts around 80% of all dementia diagnoses. The main reason of developing AD is amyloid cascade which starts from missense mutations in APP (amyloid precursor protein), Rho-associated …

Sepsis is a life-threatening organ dysfunction caused by a dysregulated immune response to infection. It is the number one cause of death in the Intensive Care Unit (ICU), accounting for 6 million casualties every year. Unfortunately, all clinical trials in the last decade failed due to the highly complex …

Clonal haematopoiesis of intermediate potential (CHIP) driven by somatic mutations in DNMT3A and TET2 has been recently recognized as a new risk factor for cardiovascular diseases (CVD). The haematopoietic clones with mutations in these genes are frequently found in myeloid malignancies and according …

Background: Lung fibroblasts are implicated in abnormal tissue repair in chronic obstructive pulmonary disease (COPD). The exact mechanisms are unknown and comprehensive analysis comparing COPD- and control fibroblasts is lacking. Aim: To gain insight in the role of lung fibroblasts in COPD pathology …

Aims Genetic hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomere protein-encoding genes (i.e. genotype-positive HCM). In an increasing number of patients, HCM occurs in the absence of a mutation (i.e. genotype-negative HCM). Mitochondrial dysfunction is thought to be a key driver of …

This literature review will focus on how CRISPR/Cas can be used in curing diabetes. CRISPR is a newly discovered genetical engineering tool that was first found in bacteria and it has an important immune function, protecting them from viral infections by cutting the viral DNA, thereby disabling it. Researchers …

The process of sleep transitions (falling asleep and awakening) determines our perception of the consecutive morning experience. Factors contributing towards a productive and pleasant start of the day were evaluated in order to build context for the design of an innovative alarm clock. Two types of factors …

Understanding the factors that may impact the transfer, persistence, prevalence and recovery of DNA (DNA-TPPR), and the availability of data to assign probabilities to DNA quantities and profile types being obtained given particular scenarios and circumstances, is paramount when performing, and giving …