Stay up to date with news from the Personalised Medicine world!
Welcome back to the Education Newsletter series! We hope are having a good spring break. This month we take a look at a new RNA-editing based therapy, developments in medical device technology, and more! As always, please reach out to us if you have a story you'd like us to include in the next edition.
New in Personalised Med
RNA-editing therapy to be trialled for alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin (AAT) deficiency is a genetic disease that affects the lungs and liver. It is commonly caused by a G-to-A point mutation and has limited treatment options, with intravenous AAT infusion currently being the only specific treatment for the condition. RNA-editing therapies typically make use of an enzyme called adenosine deaminase acting on RNA (ADAR), which is naturally found in cells. The enzyme replaces adenosine with inosine (A-to-I RNA editing), which is read as guanosine during translation. Wave Life Sciences, a Massacheusettes based biotech firm that focuses on RNA-based therapies, has recently announced a dosing clinical program for the first RNA-editing therapy for AAT deficiency with their new therapy WVE-006.
Read more about this here.
Detecting GI anastomotic leaks with small bioabsorbable stickers
Anastomotic leaks - or leaking of gastrointestinal contents into the peritoneum at the site of a join in the GI tract - are one of the major complications of GI surgery. They can lead to serious complications including peritonitis, sepsis, and tissue damage due to acid, but are often difficult to detect on ultrasound, CT and MRI until there is significant damage to the surrounding tissue. Researchers at Northwestern University have developed small hydrogel stickers that can be imaged on ultrasound to help detect these leaks earlier. The stickers swell up in the presence of stomach acid and shrink in the presence of alkaline secretions from the liver and pancreas, so they can be stuck to the outside of organs during surgery and any changes in size can be tracked using ultrasound.
Read more about this here.
Making healthcare AI tools more equitable
In order to remove bias from healthcare AI tools, it is important that a diverse data set representative of the ethnically diverse population in the UK is used to train the tools. A team of researchers from the Oxford’s Nuffield Department of Orthopaedics, Rheumatology and Muskuloskeletal Sciences (NDORMS), University College London and the Centre for Ethnic Health Research analysed the distribution of ethnicity in NHS data, and are now looking to investigate how different ethnic groups were impacted by the Covid-19 pandemic. Their research aims to highlight how AI tools han be trained on a more diverse data set to reduce bias.
Read more about this here.
Deep Dive: Medtech in Cardiovascular Care
Cardiovascular diseases - particularly ischaemic heart disease and stroke - are the leading cause of death globally and a major burden on heathcare systems. In this month’s deep dive we look at technological advancements that are improving prediction rates and early detection of cardiovascular diseases, including the rise of in silico models and increasing availability of wearable medtech devices.
In silico models are computer models that reflect a digital version of a biological process. They can be used to map out an individual’s unique features by inputting their genetic and environmental risk factors, and the model can then be used to predict personalised responses to challenges. For example, The Living Heart Project is a model that can be used to create a 3D image of a patient’s heart, mapping the electrical, structural, and fluid flow physics of the organ. This model can be used to test the efficacy of medical devices such as pacemakers and visualise how they function under different conditions, which can help guide decisions on which device is right for an individual patient. It can also be used in research, for example to look at how ablation of different parts of the heart affects the electrical circuitry, which can be applied to refinement of electrophysiological interventions for atrial fibrillation.
Wearable medtech is becoming increasingly widespread - at the very least we all walk around with a mobile phone that records steps and flights climbed for the day, and many of us have smart watches or fitness devices that monitor even more parameters like heart rate, temperature, oxygen saturation and more. Continuous ECG monitoring through wearable medtech has resulted in an increase in diagnosis and detection rates of atrial fibrillation in people over the age of 65 years old, according to the Apple Heart Study and the Fitbit Heart study. On one hand this can be seen as a positive finding - more atrial fibrillation is being detected early, and therefore can be treated before fatal complications such as stroke can occur. However, it is not yet clear whether there is an overall survival benefit of this detection, or if there is simply over-treatment as many individuals with transient atrial fibrillation may never experience symptoms or complications.
Infographic of the Month
Data from the Phase 3 trial of The R21/Matrix-M Malaria vaccine developed by Oxford University and Serum Institute of India Pvt Ltd was published in The Lancet last month, and confirmed that the vaccine had high efficiency and good safety. The infographic below breaks down the steps of vaccine synthesis.
Source: Malaria Investigational Vaccine | Novavax. https://www.novavax.com/science-technology/vaccine-pipeline/malaria-investigational-vaccine