Topics

New screening approach helps identify sources of rare genetic diseases in children

07:11 EDT 30 Apr 2019 | Science Daily

Scientists are using a new approach to pinpoint the causes of rare genetic diseases in children and identify treatment options faster than with traditional methods. The new approach combines DNA sequencing and a chemical analysis called metabolomics to identify mutant genes that cause defective metabolic pathways in patients.

Original Article: New screening approach helps identify sources of rare genetic diseases in children

NEXT ARTICLE

More From BioPortfolio on "New screening approach helps identify sources of rare genetic diseases in children"

Quick Search

Relevant Topics

Pediatrics
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

DNA sequencing
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...