10/23/2023

Primary immunodeficiency

From the abstract: "Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system. Namely, an increasing number of patients with IEIs present with severe dysregulations of the central nervous, digestive, renal or pulmonary systems. "

Cystic fibrosis

From the paper: " Cystic fibrosis is a genetic disease associated with high rates of premature death. There have been many advances in clinical care for cystic fibrosis during the past 50 years, such as the widespread implementation of newborn screening for early diagnosis, enhanced mucociliary clearance techniques, and improvements in nutrition (including adjusted pancreatic enzyme replacement therapy and a high-energy, high-fat diet). However, the life expectancy of patients with cystic fibrosis is still substantially shorter than that of the general population."

Whole genome sequencing

From the abstract: "Rapid genomic testing in critically ill children is becoming the standard of care where there is a high suspicion of an underlying genetic condition and should be provided equitably for all patients in acute care settings. The HGSA encourages an appropriately resourced multidisciplinary team approach, particularly involving genetic health professionals, wherever practicable in the delivery of rapid genomic testing services. Pre-test genetic counselling should be tailored to the family and followup appointments should be offered. Explicit informed consent for rapid genomic testing should be obtained, even in acute care settings. "

Liquid biopsy

From the abstract: " Although circulating tumor DNA (ctDNA) assays are increasingly used to inform clinical decisions in cancer care, they have limited ability to identify the transcriptional programs that govern cancer phenotypes and their dynamic changes during the course of disease. To address these limitations, we developed a method for comprehensive epigenomic profiling of cancer from 1?ml of patient plasma. Using an immunoprecipitation-based approach targeting histone modifications and DNA methylation, we measured 1,268 epigenomic profiles in plasma from 433 individuals with one of 15 cancers. "

Parkinson's disease

From the paper: "The genetic architecture of Parkinson's disease ranges from familial monogenic forms caused by rare highly penetrant variants to complex sporadic forms associated with high-frequency low-penetrance variants. Most large-scale genome-wide association studies (GWASs) have been done in individuals of European ancestry, and data on common low-penetrance risk variants associated with Parkinson's disease in African people are scarce. "