65 Results
Sort By:
Published on May 10, 2022
Researchers have identified butyrylcholinesterase (BChE) as the first biochemical marker that could help detect babies at higher risk of dying from Sudden Infant Death Syndrome (SIDS). The death of an apparently healthy infant less than one year old during sleep, SIDS is the one of the leading causes of infant…
Published on March 24, 2022
David Dimmock, M.D. Preeminent clinical genomic medicine pioneer David Dimmock, M.D. has joined RNA-based medicine developer Creyon Bio as chief medical officer, the company announced today. Dimmock, working in the lab of Howard Jacob at Medical College of Wisconsin was an instrumental part of the first…
Published on February 16, 2022
Sponsored content brought to you by Jyoti Palaniappan In the 20 years since the Human Genome Project brought genomics to the mainstream, the challenge of analyzing its more than three-billion base pairs of data—and the high cost of reading an individual genome—has prevented whole genome sequencing…
Published on December 1, 2021
Cell-free (cf)DNA based non-invasive prenatal testing (NIPT) hit a milestone last August when the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine recommended it should be offered to all pregnant women regardless of their age or risk status. Since being introduced commercially 10 years ago,…
Published on December 1, 2021
By Alison Bateman-House, PhD, MPH, MA and Lisa Kearns, MS, MA Introduction Patients who have no therapeutic or diagnostic options available may seek access to investigational (experimental) products in development by enrolling in clinical trials. For seriously ill patients who cannot join a trial, Expanded Access (EA) may be a…
Published on December 1, 2021
It’s already more than a $160 billion market and is expected to grow to almost $550 billion over the next ten years. But while companies and investors have learned how to profit handsomely from them, rare diseases are still a healthcare desert to most people who suffer from them. Of…
Published on July 22, 2021
Since its founding in 2014, genomic data analysis, interpretation, and reporting company Congenica has honed its decision support and analysis engine via its partnership with Genomics England and the country’s National Health Service (NHS). With a new partnership with U.S.-based precision medicine leader Sanford Health and fresh off an equity…
Published on October 5, 2020
Florida’s AdventHealth for Children and Rady Children’s Institute for Genomic Medicine (RCIGM) have announced a partnership that will bring rapid and ultra-rapid whole genome sequencing to help diagnose critically ill infants and children in AdventHealth’s intensive care unit with the aim of providing fast diagnoses of their conditions. The rapid…
Published on September 15, 2020
VIEW NOW Broadcast Date: October 8, 2020Time: 9:00 am PT, 12:00 pm ET, 18:00 CET In 2010, a team of geneticists and bioinformaticians at Medical College Wisconsin embarked on an ambitious clinical genome sequencing project to end the diagnostic odyssey of a young boy, Nicholas Volker. That project, led by…
Published on August 11, 2020
Type 1 diabetes (T1D) is an autoimmune disorder that often begins early in life. It is upon the appearance of islet autoantibodies, targeting the pancreatic islets that ultimately result in insulin deficiency, that a person is considered high risk. But clinical diabetes can result in weeks to years later and…
Published on July 24, 2020
Content sponsored by Clinical genomics Clinicians today are increasingly turning to clinical genomics applications to help identify and diagnose medical conditions at all stages of a patient’s life. Before conception, carrier screening can identify recessive genetic diseases in prospective parents, and newborn screening for common metabolic disorders and inherited diseases…
Published on October 8, 2019
Among the challenges long faced by diagnostics developers striving to broaden the use of their tests is finding enough patients to generate enough samples, especially for rare or inherited disorders, as well as finding ways of getting paid for that testing. Invitae launched its own solution to those challenges in…
Published on September 15, 2017
PerkinElmer said it will provide support services to the Whole Genome Sequencing (WGS) Diagnostic Program of In-Depth Genomics (IDG) through a collaboration designed to bring genetic diagnosis to neurology patients across a range of conditions that include rare and orphan disorders. Through the collaboration—whose value was not disclosed—PerkinElmer Genetics, the…
Published on July 28, 2017
Ascendas Genomics will develop and commercialize molecular diagnostic systems and assays in China using Fluidigm’s Biomark™ HD and Juno™ microfluidic technologies, the companies said. Fluidigm’s microfluidic technology is designed to detect somatic and genomic variations from patient samples. The company says its technology is intended to enable highly scalable and…
Published on January 18, 2017
Researchers and physicians from across the country have formed a new consortium dubbed NSIGHT (Newborn Sequencing in Genomic Medicine and Public Health) to explore the implications, challenges, and opportunities associated with the possible use of genomic sequence information of newborns. Initial work from the NSIGHT consortium was published recently in…