Category Archives: Transhuman News

PUBLIC RELEASE DATE:

17-Apr-2014

Contact: Helen Dodson helen.dodson@yale.edu 203-436-3984 Yale University

New Haven, Conn. Researchers from Yale School of Medicine and Celera Diagnostics have confirmed the significance of a genetic variant that substantially increases the risk of a frequently fatal thoracic aortic dissection or full rupture. The study appears online in PLOS ONE.

Thoracic aortic aneurysms, or bulges in the artery wall, can develop without pain or other symptoms. If they lead to a tear dissection or full rupture, the patient will often die without immediate treatment. Therefore, better identification of patients at risk for aortic aneurysm and dissection is considered essential.

The research team, following up on a previous genome-wide association study by researchers at Baylor College of Medicine, investigated genetic variations in a protein called FBN-1, which is essential for a strong arterial wall. After studying hundreds of patients at Yale, they confirmed what was found in the Baylor study: that one variation, known as rs2118181, put patients at significantly increased risk of aortic tear and rupture.

"Although surgical therapy is remarkable and effective, it is incumbent on us to move to a higher genetic level of understanding of these diseases," said senior author John Elefteriades, M.D., the William W. L. Glenn Professor of Surgery (Section of Cardiac Surgery) at Yale School of Medicine, and director of the Aortic Institute at Yale-New Haven Hospital. "Such studies represent important steps along that path."

The researchers hope their confirmation of the earlier study may help lead to better clinical care of patients who may be at high risk of this fatal condition. "Patients with this mutation may merit earlier surgical therapy, before aortic dissection has a chance to occur," Elefteriades says. Yale cardiothoracic surgeons will now begin assessing this gene in clinical patients with aneurysm disease.

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The Yale-New Haven Hospital Aortic Institute opens April 22. It will specialize in clinical care, basic science, and clinical research in aortic disease.

Original post:
Gene variant raises risk for aortic tear and rupture

The Harvard-MIT genomic science institute stays mute on how it will assert control over the tools expected to speed cures and change gene therapy.

One of the most important genetic technologies developed in recent years is now patented, and researchers are wondering what they will and wont be allowed to do with the powerful method for editing the genome.

On Tuesday, the Broad Institute of MIT and Harvard announced that it had been granted a patent covering the components and methodology for CRISPRa new way of making precise, targeted changes to the genome of a cell or an organism. CRISPR could revolutionize biomedical research by giving scientists a more efficient way of re-creating disease-related mutations in lab animals and cultured cells; it may also yield an unprecedented way of treating disease (see Genome Surgery).

The patent, issued just six months after its application was filed, covers a modified version of the CRISPR-Cas9 system found naturally in bacteria, which microbes use to defend themselves against viruses. The patent also covers methods for designing and using CRISPRs molecular components.

The inventor listed on the patent is Feng Zhang, an MIT researcher and core faculty member of the Broad. Zhang was an MIT Technology Review Innovator Under 35 in 2013.

The patent describes how the tools could be used to treat diseases, and lists many specific conditions from epilepsy, to Huntingtons, to autism, and macular degeneration. One of the most exciting possibilities for CRISPR is its potential to treat genetic disorders by directly correcting mutations on a patients chromosomes. That would enable doctors to treat diseases that cannot be addressed by more traditional methods, a goal already set by a startup cofounded by Zhang called Editas Medicine (see New Genome-Editing Method Could Make Gene Therapy More Precise and Effective).

Another founder of Editas, Jennifer Doudna, and her institute, the University of California, have a pending patent application for CRISPR technology. How that west coast application will be affected is not yet clear. Its also unclear what impact the Broads claims on the technology will have on its commercial use and on basic research.

Chelsea Loughran, an intellectual property litigation lawyer who has been following CRISPR over the last year, says that lots of people are already using CRISPR and its not clear if it will now become harder for them to do that. All of that is in the hands of MIT and the Broad, she says.

While MIT, Harvard, and the Broad all jointly own the CRISPR patents announced yesterday, the Broads technology licensing office is managing decisions about who will get licenses to use the technology, says Lita Nelsen, director of the MIT Technology Licensing Office. (Licenses areformal permissions to use a patented technology, often in exchange for money.)

A spokesperson for the Broad says that specific details around licensing arent available at this time, but the Broad does intend to make this technology broadly available to scientists.

The rest is here:
Broad Institute Gets Patent on Revolutionary Gene-Editing Method