Selected category: Genetics

NGS is a vital tool used for studying the structure and function of DNA for multiple applications. However, there are several challenges commonly encountered when using this technique, particularly when working with degraded or trace levels of RNA. These issues motivated research staff at Kazusa DNA Research Institute in Japan to search for library preparation kits that would enable high quality sequencing for its customers when working with low quality samples.

The advent of new genetics technologies has exploded in the last decade. Since the unravelling of the human genome project in 2003, and with recent discoveries in the field of epigenetics, we are starting to understand not only how and when genes are expressed, but which post-translational modifications are important in disease, and how we can manipulate them therapeutically. Professor Christopher E Mason has developed new technologies to catalog genetic and epigenetic changes caused by everything from cancers to novel viruses, and these tools have proven invaluable during the COVID-19 pandemic.

Genetic screening is used during pregnancy to look for hereditary conditions due to a chromosomal abnormality – such as Down’s syndrome – or changes in the DNA sequences, and typically involves an invasive amniocentesis procedure. Yourgene Health, an international molecular diagnostics group, has developed an automated, non-invasive alternative, for more accurate and safer prenatal screening.

Genetic testing to screen for congenital defects is useful to identify susceptibility to, or the cause of, many diseases. The medical genetics department at the Policlinico di Milano – a teaching hospital in Italy’s Lombardy region – is using automation to improve the throughput of its genetic screening workflow, aiming to increase the number of diseases it can test for, and the number of samples it can handle.