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NEW YORK (GenomeWeb) – KT Pickard and his wife Kimberly decided to forgo the traditional health system route to figure out the cause of their daughter's autism. In just two months, they opened an Experiment.com account, raised $1,750 to cover whole-genome sequencing for their daughter, and obtained preliminary results from her sequence data that might explain the cause of her autism.

The Pickards are not the only ones tapping their social networks and beyond to raise money for genome sequencing, particularly to determine the molecular cause of rare disease.

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A man has confessed to the rape and murder of developmental biologist Suzanne Eaton, according to the New York Times.

The Irish Times reports that US lawmakers and law enforcement agencies are concerned about ties between the US and Chinese genomics firms.

Parents of children with spinal muscular atrophy tell the Washington Post they are pushing to get insurance coverage of Novartis's Zolgensma.

In PNAS this week: gene mutations in individuals with syndromic craniosynostosis, putative colorectal cancer drivers, and more.

Jul
23
Sponsored by
Qiagen: Nov 16, 2014

This webinar will discuss how the Molecular Pathology Laboratory at the University of Oklahoma (OUMP) is using a new quality improvement model to support molecular testing of oncology patients. 

Jul
24
Sponsored by
Hologic

This webinar will share the results of comparisons of commercially available nucleic acid amplification tests for use in routine screening of pregnant women for Group B Streptococcus (GBS).

Jul
25
Sponsored by
Roche

This webinar will discuss the evolution of fetal aneuploidy screening and the most recent evidence around the implementation of prenatal cell-free DNA testing in clinical practice.

Jul
31
Sponsored by
Thermo Fisher Scientific

This webinar will provide a first-hand look at how a molecular laboratory validated and implemented a targeted next-generation sequencing-based myeloid assay to expedite the assessment of myeloid malignancies and assist in the understanding of myeloid cancers.