Category Archives: Gene Medicine

ScienceDaily (Oct. 2, 2012) Cancerous tumors contain hundreds of mutations, and finding these mutations that result in uncontrollable cell growth is like finding the proverbial needle in a haystack. As difficult as this task is, it's exactly what a team of scientists from Cornell University, the University of North Carolina, and Memorial Sloan-Kettering Cancer Center in New York have done for one type of breast cancer. In a report appearing in the journal Genetics, researchers show that mutations in a gene called NF1 are prevalent in more than one-fourth of all noninheritable or spontaneous breast cancers.

In mice, NF1 mutations are associated with hyper-activation of a known cancer-driving protein called Ras. While researchers have found earlier evidence that NF1 plays a role in other types of cancer, this latest finding implicates it in breast cancer. This suggests that the drugs that inhibit Ras activity might prove useful against breast cancers with NF1 mutations.

"As we enter the era of personalized medicine, genomic technologies will be able to determine the molecular causes of a woman's breast cancer," said John Schimenti, Ph.D., a researcher involved in the work from the Center for Vertebrate Genomics at Cornell University College of Veterinary Medicine in Ithaca, New York. "Our results indicate that attention should be paid to NF1 status in breast cancer patients, and that drug treatment be adjusted accordingly both to reduce the cancer and to avoid less effective treatments."

To make this discovery, scientists analyzed the genome of mammary tumors that arise in a mouse strain prone to genetic instability -- whose activity closely resembles the activity in human breast cancer cells -- looking for common mutations that drive tumors. The gene NF1 was missing in 59 out of 60 tumors, with most missing both copies. NF1 is a suppressor of the oncogene Ras, and Ras activity was extremely elevated in these tumors as a consequence of the missing NF1 gene. Researchers then examined The Cancer Genome Atlas (TCGA) data, finding that NF1 was missing in more than 25 percent of all human breast cancers, and this was associated with a decrease in NF1 gene product levels, which in turn is known to increase Ras activity. "This research is compelling because it helps us understand why some breast cancers are more likely to respond to only certain types of treatment," said Mark Johnston, Editor-in-Chief of the journal GENETICS. "The findings reported in this article may guide clinicians to better treatments specific to the needs of each patient."

This study was supported by NIH training grants IT32HDO57854 and 5T32GM007617 that supported M.D.W.; Empire State Stem Cell Fund contract numbers C026442 and C024174 to J.C.S.; and C.M.P. and A.D.P. were supported by NCI Breast SPORE program (P50-CA58223-09A1), by U24-CA143848, and by the Breast Cancer Research Foundation.

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The above story is reprinted from materials provided by Genetics Society of America, via Newswise.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

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Gene responsible for many spontaneous breast cancers identified

Washington, October 3 (ANI): A team of scientists has shown that mutations in a gene called NF1 are prevalent in more than one-fourth of all noninheritable or spontaneous breast cancers.

The team include scientists from Cornell University, the University of North Carolina, and Memorial Sloan-Kettering Cancer Center in New York.

In mice, NF1 mutations are associated with hyper-activation of a known cancer-driving protein called Ras. While researchers have found earlier evidence that NF1 plays a role in other types of cancer, this latest finding implicates it in breast cancer.

This suggests that the drugs that inhibit Ras activity might prove useful against breast cancers with NF1 mutations.

"As we enter the era of personalized medicine, genomic technologies will be able to determine the molecular causes of a woman's breast cancer," said John Schimenti, Ph.D., a researcher involved in the work from the Center for Vertebrate Genomics at Cornell University College of Veterinary Medicine in Ithaca, New York.

"Our results indicate that attention should be paid to NF1 status in breast cancer patients, and that drug treatment be adjusted accordingly both to reduce the cancer and to avoid less effective treatments," he added.

To make this discovery, scientists analyzed the genome of mammary tumors that arise in a mouse strain prone to genetic instability-whose activity closely resembles the activity in human breast cancer cells-looking for common mutations that drive tumors.

The gene NF1 was missing in 59 out of 60 tumors, with most missing both copies. NF1 is a suppressor of the oncogene Ras, and Ras activity was extremely elevated in these tumors as a consequence of the missing NF1 gene.

Researchers then examined The Cancer Genome Atlas (TCGA) data, finding that NF1 was missing in more than 25 percent of all human breast cancers, and this was associated with a decrease in NF1 gene product levels, which in turn is known to increase Ras activity.

The research was published in the journal GENETICS.(ANI)

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Gene behind many spontaneous breast cancers identified

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Public release date: 1-Oct-2012 [ | E-mail | Share ]

Contact: Allison Elliott allison.elliott@uky.edu University of Kentucky

LEXINGTON, Ky. (Oct. 1, 2012) Usher syndrome is a hereditary disease in which affected individuals lose both hearing and vision. The impact of Usher syndrome can be devastating. In the United States, approximately six in every 100,000 babies born have Usher syndrome.

Several genes associated with different types of Usher syndrome have been identified. Most of these genes encode common structural and motor proteins that build sensory cells in the eye and inner ear.

In a paper to be published in the November 2012 issue of Nature Genetics, a team of researchers from multiple institutions, led by Zubair M. Ahmed from the University of Cincinnati and Cincinnati Children's Hospital Medical Center, and including Gregory Frolenkov, associate professor in the University of Kentucky College of Medicine Department of Physiology, reported a novel type of gene associated with Usher syndrome - a calcium and integrin binding protein 2 (CIB2).

Zubair M. Ahmed, Saima Riazuddin, Thomas B. Friedman and their teams have identified this gene on chromosome 15 and determined that its mutations are responsible for nonsyndromic deafness and Usher syndrome type I. CIB2 was found to be interacting with other proteins associated with Usher syndrome.

Suzanne Leal and her team at the Baylor College of Medicine found that in Pakistan, CIB2 mutations are one of the prevalent genetic causes of nonsyndromic hearing loss.

Inna Belyantseva at the National Institute on Deafness and Other Communication Disorders, the National Institutes of Health, established that CIB2 is localized at the tips of mechanosensory stereocilia of the inner ear hair cells, exactly where the conversion of sound waves into electrical signals occurs.

Frolenkov and his team at UK demonstrated that disease-associated mutations in CIB2 change the ability of this protein to bind intracellular calcium; in a zebra fish model, its loss disrupts mechanosensitivity in the hair cells.

Furthermore, Tiffany Cook, Elke Buschback and their team at University of Cincinnati knockdown CIB2 analog in Drosophila (fruit fly) eyes and observed calcium-dependent degeneration of photoreceptors and loss of sensitivity to repetitive light pulses.

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Novel gene associated with Usher syndrome identified

October 1, 2012

redOrbit Staff & Wire Reports Your Universe Online

A team of researchers, led by members of the University of Cincinnati (UC) and Cincinnati Childrens Hospital Medical Center, have reportedly discovered a new genetic mutation that leads to deafness and hearing loss associated with a relatively rare condition.

In a September 30 press release, lead investigator and UC assistant professor of ophthalmology Zubair Ahmed explain that he and his colleagues were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey.

The culprit, according to Ahmed, is a protein known as CIB2. Mutations in the protein, which binds to calcium inside cells, has been discovered to be linked to deafness both in Usher syndrome and cases of non-syndromic hearing loss.

He noted that these mutations were found to be the primary genetic cause of non-syndromic hearing loss in Pakistan, and that during their research, he and his colleagues discovered a second CIB2 mutation that has been linked to deafness among people of Turkish heritage.

In animal models, CIB2 is found in the mechanosensory stereocilia of the inner ear hair cells, which respond to fluid motion and allow hearing and balance, and in retinal photoreceptor cells, which convert light into electrical signals in the eye, making it possible to see, Saima Riazuddin, assistant professor in UCs department of otolaryngology and co-lead investigator on the study, added in a statement.

Ahmed, Riazuddin, and company found that CIB2 tended to be stained brighter at the tips of shorter rows of the cellular apical modifications known as stereocilia than nearby longer rows, where it could be involved in the calcium signaling process which regulates how the ear converts mechanical energy into the type of energy recognizable by a persons brain as sound.

With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1, Ahmed explained.

Their work appears in the Sept. 30 advance online edition of the journal Nature Genetics. Researchers from the National Institute on Deafness and other Communication Disorders (NIDCD), the Baylor College of Medicine and the University of Kentucky were also involved in the study, which was funded by the NIDCD, the National Science Foundation (NSF), and the Research to Prevent Blindness Foundation.

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New Gene Associated With Hearing Loss Discovered

SAN FRANCISCO, CA--(Marketwire - Oct 1, 2012) - The life sciences sector continued to outperform the broader markets in September, but developments during the month were notable for highlighting the acceleration of the transformation of healthcare through personalized medicine, Burrill & Company says.

"Our healthcare system is dysfunctional and has largely been unchanged through human history in its episodic approach that focuses on treating the symptoms of illness," says G. Steven Burrill, CEO of Burrill & Company, a diversified global financial services firm. "Although personalized medicine's transformation of healthcare is an evolutionary rather than a revolutionary process, the events of the past month point to a rapid acceleration of efforts to make medicine personalized, predictive, and pre-emptive and promises to bend the cost-curve of healthcare in a meaningful way."

The University of Texas MD Anderson Cancer Center's announced an ambitious $3 billion Cancer Moon Shots Program, which seeks to develop new diagnostics, devices, drugs, and policies to detect, prevent, and treat cancer by capitalizing on the convergence of low-cost sequencing, artificial intelligence, and other emerging technologies.

September also saw a number of developments on the sequencing front. Chinese sequencing giant BGI-Shenzhen announced a $117.6 million acquisition of the struggling next-generation sequencing company Complete Genomics. Mountain View, California-based Complete Genomics, which has been working to provide whole genome sequencing through a service-based business model, announced a restructuring in June that included a shift in focus to the development of clinical applications for its whole genome sequencing service. BGI-Shenzhen provides deep pockets that should accelerate the clinical applications of Complete Genomic's technology.

Complete Genomics' larger competitors also announced developments that should accelerate the clinical utility of genomic sequencing. Life Technologies began shipping its low-cost Ion Proton sequencing system. The company said the chip-based system cost about a third of genome scale sequencing systems that rely on light to read a genome. The device sits on a desktop and can sequence exomes and transcriptomes in two to four hours at a cost of $1,000 per run. Life Technologies next expects to release a second-generation chip for the system around the end of the first quarter of 2013 that will be able to sequence the human genome in a few hours for $1,000.

At the same time, the genetic sequencing tools company Illumina and the non-profit healthcare system Partners Healthcare announced an agreement to provide geneticists and pathologists networking tools and infrastructure to report and interpret data from genetic sequencing. By pairing Illumina's expertise in sequencing with Partners Healthcare's understanding of what's needed for clinical utility, the two hope to leverage each other's strengths to deliver a comprehensive sequencing and clinical reporting solution.

Others are also taking steps to apply new personalized medicine approaches to clinical care. The Big Data analytics company GNS Healthcare in September announced a new program with the healthcare insurance company Aetna to use GNS' supercomputing capabilities to help identify Aetna members at risk for heart and metabolic disorders that can result in stroke, heart attack or diabetes, earlier than it does today. GNS will develop data-driven models that will define a person's risk for developing metabolic syndrome using Aetna claims data as well as health records. A separate agreement between GNS and the contract research organization Covance seeks to improve drug development by using GNS' modeling to predict the safety and efficacy of a drug candidate against different patient characteristics.

On the research side, September also saw major advances in understanding the genetics underlying disease. The Encode Project, an ambitious international effort to characterize and publish all of the functional elements in the human genome, found that the 80 percent of DNA once thought of as "junk" actually plays a critical role in regulating genes and can also play a part in the onset of disease. Researchers identified more than 4,000 switches involved in gene regulation. The findings not only create a new understanding of the role of some 80 percent of DNA once thought to serve no functional role, but also provide a new source of potential targets for drugs, and new insight into how genes are regulated and how people become ill.

Separately, a collaborative effort funded by the National Cancer Institute and the National Human Genome Research Institute, using data generated as part of The Cancer Genome Atlas, has provided a new understanding of the four major subtypes of breast cancer and finds shared genetic features between the form of breast cancer known as "Basal-like" or "Triple Negative" breast cancer and serious ovarian cancer. The findings will lead to researchers comparing treatments and outcomes for patients with the two forms of cancer and could lead to new therapeutic approaches.

"With new research findings we are reminded about how much we still don't know, but also of the rapid progress we are making," says Burrill. "We are seeing real examples of personalized medicine moving from idea to practice in meaningful ways."

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Personalized Medicine's Transformation of Healthcare Accelerates