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In Brief This Week: Horizon Discovery; Thomas Jefferson University Hospitals; National Organization for Rare Disorders; Insight Genetics

NEW YORK (GenomeWeb) – Horizon Discovery said this week that an unnamed top-10 pharmaceutical firm has contracted the Horizon CombinatoRx division to profile a lead oncology asset. The contract is for six months and Horizon CombinatoRx will be paid $450,000 for its work, which includes services in support of proof of concept, monotherapy screening, and combination screening.


Thomas Jefferson University Hospitals will offer NanoString Technologies' Prosigna Breast Cancer Prognostic Gene Signature Assay for free to patients who have recently received a positive breast cancer diagnosis and are being evaluated and treated by a Jefferson medical oncologist. The US Food and Drug Administration-cleared assay uses formalin-fixed, paraffin-embedded samples and provides information about the molecular signature of a patient's cancer. Jefferson is offering the free service through October in recognition of Breast Cancer Awareness month.


The National Organization for Rare Disorders has created a patient organization called the LPL Deficiency Association for people living with lipoprotein lipase deficiency, in order to provide support to the patients, their families, caregivers, and medical professionals. Information about genetic testing, diagnosis, treatment, clinical trials, patient assistance programs, and advice on managing the disease, which affects one in 1 million people, can be accessed through the association's website. LPLD is characterized by extremely high triglyceride levels and a deficiency of the enzyme lipoprotein lipase, which clears fat from the blood. There are no US Food and Drug Administration-approved drugs for the disease.


Insight Genetics has doubled its laboratory and office spaces in Nashville, Tenn., to more than 5,500 square feet. Eric Dahlhauser, chairman and CEO of the molecular diagnostics firm, said that the added space will allow Insight Genetics to grow and advance its companion diagnostics and clinical trials services and programs. He added that the company is growing its R&D operations, including those in next-generation sequencing, while enhancing its laboratory services and ramping up its test pipeline.


In Brief This Week is a Friday column containing news items that our readers may have missed during the week.

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.