In what experts are calling a “dream come true,” scientists used a recent biochemical discovery to help an 8-year-old boy ...

Investigators compared risk prediction using PathomIQ's platform to molecular test results, evaluating its ability to predict biochemical recurrence in high-risk patients.

Mitochondria are the body's "energy factories," and their proper function is essential for life. Inside mitochondria, a set ...

Mitochondria are the body's "energy factories," and their proper function is essential for life. Inside mitochondria, a set ...

Neurodevelopmental disorders like autism spectrum disorder, schizophrenia, and bipolar disorder are deeply complex conditions, with each involving a mosaic of genetic and environmental contributors. A ...

Base editors can correct disease-causing genetic variants. After a neonate had received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency, a disease with an estimated 50% mortality ...

Moreover, despite their genetic and biochemical distinctiveness, the spectra of hypodiploid cells were also correctly assigned to the corresponding numbers of chromosomes. The predictions of O-PLS-R ...

Courses include material covering basic genetics concepts, embryology, medical genetics, biochemical genetics, molecular genetics, cytogenetics, genomics, cancer genetics, population genetics, genetic ...

Science X Science News Wire : 2013-14 Genzyme/ACMG Foundation Training Award in Clinical Biochemical Genetics announced -- a press release is provided to you ìas isî with little or no review from ...

Research underscores importance of both genetic and functional testing in diagnosing mitochondrial disorders, particularly for cases with low-heteroplasmy deletions that otherwise could go undetected ...

Each year, the ACMG Foundation for Genetic and Genomic Medicine grants its Next Generation Fellowship awards to promising early career professionals in a range of medical genetics and genomics ...

As a clinical fellow in biochemical genetics at Johns Hopkins, Wedad Fallatah conducts research focused on the diagnosis and treatment of children with rare genetic disorders ...