Portsmouth scientists use tadpoles to discover new genetic disorders

International team of researchers from universities Portsmouth, Southampton Copenhagen has discovered that changes in the genes that encode proteins cause rare diseases.

Scientists have used cells of Otamajakushi to mimic a gene called the glutamate ionotropic receptor AMPA type subunit 1 (GRIA1) and show that these changes are responsible for behavior-altering diseases. ..

Research co-author Professor Matt Guille University of PortsmouthSaid:’Next-generation DNA sequencing is changing our ability to make new diagnoses and discover new genetic causes of rare diseases.

“The main bottleneck in providing diagnosis to these patients is to tightly link the changes found in their genome to their disease.

“By making suspicious genetic changes in tadpoles, we can test whether they cause the same disease in humans.

“The data we obtain can help our colleagues in providing the more timely and accurate diagnosis that patients and their families really need.”

A researcher at Portsmouth, American Journal Of Human Genetics, said:’This was a revolutionary piece for us.

“The ability to analyze human-like behavior of tadpoles with sufficient accuracy to detect changes associated with hereditary diseases opens up opportunities to help identify a vast range of diseases.

“This is especially important given that so many neurodevelopmental disorders are not currently diagnosed.”

The team said identifying the mutations that cause the disease could help clinicians develop interventions to help patients and their families, leading to screening and prenatal diagnosis.