Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders. Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied. To evaluate the outcomes of […]
Mississippi’s infant mortality rate reached a five-year high in 2021, according to the latest numbers from the Centers for Disease Control and Prevention. The death rate of babies under one year of age rose from 8.3 deaths per 1,000 live births in 2020 to 9.39 deaths per 1,000 live births in 2021, the most recent […]
Study Flowchart. Credit: BGI Genomics Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders. Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied. […]
ATS Quick Hits A Perfect Cloudy Storm Dr. Anne CoatesBarbara Bush Children’s Hospital Dr. Jonathan MathesBarbara Bush Children’s Hospital Case A 22-month old female with trisomy 21 presented with acute hypoxic respiratory failure in the setting of four days of worsening cough, congestion, fever and increased work of breathing. Her past medical history was notable […]
The European Medicines Agency (EMA) Pharmacovigilance Risk Assessment Committee (PRAC) in a recent press release, has recommended new measures designed to avoid topiramate use for pregnant women. Topiramate‑containing medicines are used in the EU for the treatment of epilepsy and prevention of migraine. In some EU countries, the medicine is also used in combination with […]
Yutaka Niihara and Juanita and Wanda Gougis (Courtesy photo) Over the course of her 34 years, Juanita Gougis has been shadowed by three ever-present companions: her doting mother, her supportive church, and the dreaded blood disorder, sickle cell disease (SCD). The last entity on that list was uninvited and unwelcome. Sickle cell is a hereditary […]
Abstract There has been keen interest in whether dynamic consent should be used in health research but few real-world studies have evaluated its use. Australian Genomics piloted and evaluated CTRL (‘control’), a digital consent tool incorporating granular, dynamic decision-making and communication for genomic research. Individuals from a Cardiovascular Genetic Disorders Flagship were invited in person […]
