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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

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.