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Sequoia Genetics Teams with Russian Academy on NGS-based Neonatal Dx

NEW YORK (GenomeWeb News) – Sequoia Genetics today said that it has partnered with the Research Centre of Medical Genetics of the Russian Academy of Medical Sciences to develop next-generation sequencing-based neonatal diagnostics.

The goal of the alliance is to develop a molecular diagnostic test for three inherited diseases that are included in obligatory newborn screening programs in Russia. Sequoia said that researchers involved in the project are developing a high-throughput assay that will detect all clinically relevant mutations in genes associated with cystic fibrosis, phenylketonuria, and galactosemia.

Alexander Pavlov, CEO of Sequoia Genetics, said that the firm will use the assay to carry out testing of clinical samples provided by the RCMG. Specialists from Sequoia and the RCMG will jointly interpret the results to determine clinical efficacy of the assay, he said.

Sequoia is a member of the Saint Petersburg, Russia-based Alkor Bio group of companies.

The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.