How Public and Private Sector Collaboration Gives More Children a Healthier Start to Life  According to data from the National Institute of Child Health and Human Development, more than 4 million babies are tested each year in state-led newborn screening (NBS) programs for a range of rare diseases and other inherited disorders. In some cases, …

Millions of people (many of them infants and young children) suffer from misdiagnosed or undiagnosed diseases due to insufficient genetic testing – yet there may be a way to bring those numbers down. Whole Genome Sequencing (WGS) has the potential to streamline genetic assessments and help provide early intervention.1 Most people who undergo WGS have …

International Neonatal Screening Day is celebrated annually on June 28, the birthday of Robert Guthrie, MD, Ph.D. (June 28, 1916 – June 24, 1995). Guthrie was an American microbiologist who pioneered newborn screening with the development of the first test for phenylketonuria (PKU).1This breakthrough not only saved countless lives but also paved the way for …

We are continually improving our ability to help babies have a healthy start in life. This may come in the form of new diagnostic tests for conditions, or helping countries get access to newborn screening through collaboration. Importantly, we know we’re not alone in the ambition that all babies deserve the best chance possible: OZ …

Emerging economies have shown success in addressing child health issues such as infections, malnutrition, and diarrhea. However, to further improve infant and child mortality rates, newborn screening should be adopted. Hundreds of thousands of babies each year worldwide could avoid a lifetime of disability or even death with the implementation of screening tools. Unfortunately, not …

PerkinElmer is proud to support Sickle Cell Awareness Day: June 19, 2021 Sickle cell anemia, a beta-hemoglobinopathy characterized by red blood cells with a crescent or sickle shape, is the most common inherited genetic disease in the world. The abnormally shaped blood cells tend not to be flexible enough to efficiently move around the body …

GUEST SPEAKER: Dr. Charles Kiyaga, Director Programs, Partnerships and Global Health, Uganda National Health Laboratory Services, Ministry of Health Uganda Newborn screening programs are life saving for babies who are born with abnormalities, however they are largely not funded… especially in resource limited settings. In sub-Saharan African, NBS programs virtually don’t exist and yet diseases …

Background No parents ever want to hear that their child has Duchenne Muscular Dystrophy (DMD). The most common fatal X chromosome genetic disorder diagnosed in childhood, DMD affects 1 in every 3,500 boys born each year.1 While girls can become carriers of the disorder, few ever manifest its debilitating symptoms. The reason why is because …

Dr. Maria Melanie Liberty B. Alcausin is not one to languish on her laurels. The director of the Newborn Screening Reference Center (NBRC) in the Philippines, Dr. Alcausin announced that her agency now screens up to 96% of the country’s 2.4 million babies born each year. Considering that many of those babies are born at …

A Global Blood Disorder Over 400,000 babies are born with sickle cell disease (SCD) each year, making it the most common genetic disease in the world.1 In its most severe form, known as HbSS, SCD distorts hemoglobin S, or sickle hemoglobin, into a sickle shape from which the disease derives its name.2 These irregularly shaped …