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

The Medical Biochemical Genetics fellowship is a one-year training experience that provides an integrated approach to the diagnosis and management of patients with inborn errors of metabolism. The ...

Biochemical genetic methods are typically utilized to study the large and varied assortment of genetic conditions known as inherited metabolic disorders. These methods include (1) identification and ...

One milestone of the modern scientific era was the first publication by George W. Beadle (1903-1989) and Edward L. Tatum (1909-1975) on the biochemical genetics of Neurospora (PNAS, 27:499-506, 1941).

Biochemical Genetics Case Review (weekly) – Laboratory directors, biochemical genetics laboratory fellows, metabolic faculty and residents review biochemical laboratory results from the prior week and ...

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

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 ...

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 ...

Laura Buch, MSPAS, PA-C, emphasizes the need for newborn screening to detect infantile-onset lysosomal storage diseases and swift treatment.

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 ...

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