Category Archives: Congenital disorders

Fish uncover origins of altered human facial features

In a groundbreaking study, researchers have turned to fish to gain insights into the underlying causes of altered human facial development. Using transgenic zebrafish as a model, they identified an adverse outcome pathway (AOP) for chemical-induced craniofacial anomalies. This new research from the University of Tokyo offers new perspectives on understanding the origins of facial […]

Newborn Screening Market to be Worth $2.49 Billion by 2030

The Newborn Screening Market is projected to reach $2.49 billion by 2030, at a CAGR of 7.9% from 2023 to 2030.Newborn screening is performed for the early identification of the conditions that can affect the childs survival or long-term health. The screening technology specifies a series of essential tests for early detection, health management, timely […]

Fish reveal cause of altered human facial development

Craniofacial anomalies in zebrafish. These images show the development of a zebrafish’s craniofacial cartilage (via fluorescent staining) 96 hours post fertilization, comparing typical development (on the far left) with the effect of the five drugs tested.©2023 Liu et al.i Some substances in medicines, household items and the environment are known to affect prenatal child development. […]

Young mother recovers from heart attack after hidden cardiac problem

A sudden heart attack in a fit and healthy 30-year-old mother while driving home from the Atlantis water park in Dubai has exposed the fragility of life for those living with an undiagnosed cardiac condition. Shahil Khan, from India, a mother of two young children, was enjoying a relaxing family break at the luxury hotel […]

Benchmarking Study Shows Streamlined Structural Variant Detection and High Concordance for OGM Compared to Chromosomal Microarray Analysis, the Global Standard in Genetic Disease Analysis

SAN DIEGO, Sept. 28, 2023 (GLOBE NEWSWIRE) — Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the publication of the first peer-reviewed benchmarking study to compare optical genome mapping (OGM) to the current global standard in molecular analysis of constitutional genetic disorders, chromosomal microarray analysis (CMA). The study evaluated the potential of OGM to measure all classes […]

Thyroid Problems: Hormones, Autoimmune Traits, Cancer

Thyroid problems occur when your thyroid gland (a small organ in the front of your neck) does not produce normal levels of thyroid hormones. Because these hormones control many vital functions in your body, problems can result when levels are disrupted. These hormones affect your brain and organ function, bone growth, heart rate, and muscle […]

Regeneron Adds Hearing Loss Gene Therapy Program Via Decibel Therapeutics Acquisition

Regeneron Pharmaceuticals successfully completed its acquisition of Decibel Therapeutics, strengthening the company’s gene therapy and auditory programs. “After several years of successful collaboration, the integration of Decibel’s programs, capabilities and accomplished team will further bolster Regeneron’s genetic medicines portfolio and advance our mission of helping patients around the globe,” says Leonard S. Schleifer, MD, PhD, […]

Joseph Imbriglia, MD, an Orthopedic Surgeon with Hand

New York City, New York Sep 27, 2023 (Issuewire.com) – Dr. Imbriglia holds the esteemed position of Chairman of the Board at the Hand & Shoulder Center, where he is the most senior staff member. The Hand & Shoulder Center is a premier organization of orthopedic physicians and therapists dedicated to the prevention and treatment […]