Monthly Archives: April 2014

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.

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CRISPR Genome Editing Technology Patent

Symptoms of Down syndrome are produced by gene impairments across every chromosome, not just one, according to a study that may bring new understanding to the most common genetic cause of intellectual disability.

Down syndrome occurs when there is an extra copy of chromosome 21, a condition called trisomy 21. In a study of twins, where only one had Down syndrome, a genomic analysis found that gene expression in the affected sibling had been altered throughout the genome.

Researchers have presumed for decades that Down syndrome is mainly caused by the overabundance of effects of chromosome 21 genes. The findings, published today in the journal Nature, show that a third copy of chromosome 21 disturbs the expression of all DNA in the genome. The surprise result may change understanding of Down syndromes symptoms, as well as other disorders caused by abnormal numbers of chromosomes, said Stylianos Antonarakis, a study author.

The results of this study complicate the understanding of molecular mechanisms of the symptoms of trisomy 21 and opens a new hypotheses for all chromosomal abnormalities, said Antonarakis, chairman of the Department of Genetic Medicine and Development at the University of Geneva Medical School in Switzerland, in an e-mail.

About 6,000 U.S. babies are born with Down syndrome each year. In addition to cognitive impairment, people with the condition may also suffer from ailments including heart defects, low muscle tone, vision and hearing problems and early onset Alzheimers disease. There is no cure.

The study compared a single set of identical twins in which just one twin had an extra chromosome 21. This unusual situation enabled researchers to study the effects of chromosome 21 without the bias of genome variability.

While gene expression has been studied extensively in Down syndrome, natural variations among individuals concealed the genome-wide effect of chromosome 21, researchers said.

The study found that gene dysregulation, or impairment, seen in the twin with Down syndrome is organized in domains or territories along all the different chromosomes.

Thus trisomy 21 could be now viewed as a general genomic disorder, and genes throughout the genome could be involved in the different signs and symptoms, Antonarakis said.

Humans normally have 46 chromosomes in each cell, divided into pairs. Chromosome 21 is the smallest human chromosome, accounting for less than 2 percent of the genome. Chromosome 21 probably contains 200 to 300 genes that provide instructions for making proteins.

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Down Syndrome Cause Revised by Study on Genome Effects