Monthly Archives: April 2017

Gene editing, through a technology called CRISPR , can edit DNA almost as easily as a word processor edits text. Now that system is being used to diagnose the presence of cancer and to create on-the-spot tests for infections like Zika virus , according to a new report published in the journal Science from researchers at the Broad Institute of MIT and Harvard.

CRISPR-cas9, first described in 2012, gives scientists the genetic equivalent of a word processing cursor, allowing them to home in on specific parts of a genome to delete, insert, copy, cut or paste DNA at will. In the current paper, Feng Zhang , associate professor of biological engineering and brain and cognitive sciences at MIT and a member of the Broad Institute, and his colleagues modified the CRISPR system so that it recognized the products churned out by genes as well. They used CRISPR to recognize specific substances that bacteria and viruses make. Picking up even the slightest whisper of these products can alert doctors that an infection is active.

The system, dubbed SHERLOCK, could accurately distinguish between Zika virus and dengue virus from blood, urine and saliva samples. SHERLOCK could also provide the answer more quickly than current tests. Now, it takes several days for doctors to culture microbes like bacteria or viruses in order to confirm that they are present. SHERLOCK, says Zhang, could identify a bacteria or virus in 30 minutes to an hour.

MORE : CRISPR Technology Scientists on Their Gene Editing Tool

In Zhangs tests, SHERLOCK also provided a way to measure how much virus was there, giving doctors a better sense of how entrenched the infection might be.

SHERLOCK could also pick up mutations present in tumors from patients blood. Such blood-based tests for cancer, or liquid biopsies , are a promising area of cancer research, and having a CRISPR-based tool like SHERLOCK could speed their development.

Zhang anticipates that the technology could also be critical in the fight against antibiotic resistance; SHERLOCK could determine if a persons bacterial infection is already resistant to certain antibiotics, for example, which would help doctors to avoid those drugs. It could also pick up when a persons infection starts to become resistant to the drug so doctors can switch a patients antibiotic to better fight the bacterial infection.

MORE : 5 Common Myths About Antibiotic-Resistant Bacteria

This new CRISPR based platform has the potential to be developed as a point of care diagnostic that could be as easy to use as an at-home pregnancy test, says James Collins, member of the Broad and professor of engineering at MIT.

The CRISPR system just requires a kit designed to recognize the bacteria, virus or cancer mutation in question, and those are relatively cheap and accessible. Zhangs team predicts some tests could cost less than $1. That could make it a mainstay in lower-resource countries when infectious like Zika or even Ebola emerge, by helping people to get treatment sooner so that the breadth of the outbreak is contained.

We want to deploy this in an area where it can make a real difference, says Zhang.

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Here's Another Way CRISPR Is Changing Medicine - TIME

Scientists at the Centre for Addiction and Mental Health (CAMH) and Queen's University have identified 26 new genes linked to intellectual disability. Currently most patients with intellectual disability receive no molecular diagnosis, significantly affecting their health and shortening their lifespan, according to the researchers.

The study ("Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families"),published inMolecular Psychiatry, has implications for the diagnosis and clinical care of those affected, and also adds to the growing knowledge of brain development and functioning. It may eventually lead to personalized treatments for affected individuals. Interestingly, some of the genes identified are thought to be connected with autism spectrum disorders, notes John Vincent, Ph.D.,team leader and senior scientist who heads the MiND (Molecular Neuropsychiatry and Development) Laboratory in theCampbell Family Mental Health Research Instituteat CAMH.

"This is the largest study of its kind on intellectual disability to come out of North America," he adds.

More than one in 100 children worldwide are affected by intellectual disability, which is characterized by significant limitations in learning that also affect their day-to-day lives. Frequently, intellectual disability also accompanies symptoms of autism spectrum disorders, and many genes have been found to be shared by the two illnesses.

The study involved 192 families from Pakistan and Iran with more than one affected family member. Intellectual disability is frequently caused by recessive genes, meaning that an affected child gets a defective copy of the gene from each parent.

The families in the study all had a history of marriage among relatives, which occurs quite commonly in communities in South Asia, the Middle East, and Africa. Studying families with this background, and multiple affected individuals, can enable researchers to identify disease genes that would otherwise remain hidden.

The Canadian research team pinpointed mutations related to intellectual disability in half of these 192 families, in 72 different genes. The identification of 26 new genes adds to 11 new genes that the team had previously linked to intellectual disability.

One immediate implication of the study is to prevent future cases of intellectual disability, the researchers say. Unaffected family members and relatives could be genetically screened to see if they carry these mutations and provided with counselling on the risks of "within-family" marriages.

A broader goal is to develop diagnostic screening tools that are also relevant to populations in which "within-family" marriages are rare, such as Canada, U.S., Japan, China, and Europe. Ultimately, this information would be used to plan more personalized treatment.

While 26 genes may seem a substantial number, there are likely hundreds of genes that, when defective, may lead to intellectual disability. "The strategy we have used speeds up the process of identifying disease genes and of enabling diagnostic labs to deliver more accurate information for clinicians and families," explains Dr. Vincent.

This strategy involves various genetic techniques, including microarray genotyping and whole-exome sequencing, and studying families with a history of marriage among relatives.

"There's an opportunity now to further explore the functioning and biological pathways of these genes, and to help complete the picture of how the central nervous system works," continued Dr. Vincent. "Knowing the genes involved is a big step forward, but understanding how they function is also crucial before we can start planning treatments or even cures."

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Gene Findings Advance Precision Medicine for Intellectual Disability - Genetic Engineering & Biotechnology News

Since actress Angelina Jolie had a preventative double mastectomy based on foreboding genetic testing in 2013, a study of 2,000 cancer patients conducted by Stanford University found that roughly half of those who opted for a bilateral mastectomy had a gene variant that may have been harmless.

All of the patients in the study had been recently diagnosed with cancer and had been tested for the BRCA1 and BRCA2 genetic mutations prior to having a bilateral, or double, mastectomy.

The study found that half of the women who had a bilateral mastectomy after having the genetic testing had variants of uncertain significance, or VUS, which may not correspond to a higher cancer risk.

The genetic testing has become more common because it is less expensive than it used to be. But interpretations of the results can be complicated and confusing.

Between 25 and 50 percent of the breast cancer surgeons admitted to treating women with the VUS the same way they would treat women with known cancer-associated variants. This may have led less-experienced surgeons to recommend aggressive bilateral mastectomy when the involvement of a genetic counselor might have led to a different result.

In a review of the study on the Stanford Medicine News Center, Allison Kurian, MD, said, Our findings suggest a limited understanding among physicians and patients of the meaning of genetic testing results.

An earlier study, conducted in February, found that doctors often did not recommend genetic testing for breast cancer patients who were at high risk for carrying the BRCA1 or BRCA2 genes.

That study surveyed 2,502 women who had recently been diagnosed with breast cancer. Among them, 666 had received the genetic testing with 59% of that group testing positive for the genes. A quarter of that group did not have the testing done until after completing surgery. Women without private medical insurance were more likely to have delayed testing.

Our findings suggest that we are not maximizing the benefit of genetic testing for our patients with breast cancer because of barriers related to timeliness of testing and lack of expertise necessary to incorporate results into treatment decisions, said University of Michigan researcher Steven Katz, MD, MPH.

Originally posted here:
Stunning Allegation: Half of all mastectomy patients do NOT have cancer gene; Misreading data? - CrimeOnline

April 13, 2017 by Fred Gould Credit: North Carolina State University

Providing blanket approval or condemnation of all genetically engineered (GE) crops oversimplifies a complex issue and ignores the continued need for scrutiny, risk assessment and debate among various stakeholders including scientists, farmers and the general public.

That's the main message of a letter, "Elevating the Conversation About GE Crops," published this week in Nature Biotechnology. It responds to a December 2016 critique of last May's U.S. National Academies of Sciences, Engineering, and Medicine report on genetic engineering.

Fred Gould, William Neal Reynolds Professor of Agriculture at North Carolina State University and co-director of the university's Genetic Engineering and Society Center, chaired the National Academies committee responsible for the report, Genetically Engineered Crops: Experiences and Prospects, which aimed to "assess the evidence for purported negative effects of GE crops and their accompanying technologies" and to "assess the evidence for purported benefits of GE crops and their accompanying technologies." Gould is also the corresponding author of the letter, which represents the views of the 20-person committee that produced the report.

"It is not surprising that our detailed conclusions, which are often crop-, trait- and context-specific, do not sit well with those who want a universal thumbs-up or thumbs-down to GE crops," Gould said. "It is a nuanced report because the issue is not black and white. Maybe the greatest value of the report is pointing out that there is no straightforward answer."

The scathing critique, published in Nature Biotechnology late last year, called for blanket approval of GE crops and derided the report for a number of what it called "inaccuracies" and "omissions."

"This unwillingness to overtly back GE crops, and the report's efforts to give credence to alternative viewpoints rather like the media's obsession with giving two sides of an argument equal play, irrespective of which view is supported by the evidence is puzzling," the critique stated.

This specific critique is, in effect, an uninformed indictment of the National Academies' process, Gould says.

He points to the letter's description of the painstaking way the report was produced.

"For the three report chapters concerning currently commercialized GE crops, our report includes over 900 references," the letter states. "Once our committee developed a full draft of the report, it was sent to 26 reviewers with diverse expertise and perspectives (these reviewers were anonymous to the committee until they were acknowledged in the final report). Each of the 918 comments and criticisms in the reviews had to be specifically addressed by the committee to the satisfaction of a National Academies' independent review board before the report could move forward for the Academies' approval. With all this input and review, this report clearly represented more than the opinions of the 20 committee members."

The critique also accused the report of paying too much attention to non-experts the general public.

"Science is not democratic," the critique asserted. "The citizenry do not get to vote on whether a whale is a mammal or a fish, the temperature at which water boils, or whether the number 'pi' should be rounded off. There is no such public consultation with respect to the introduction of a new kind of flu vaccine or of new techniques of cardiovascular surgery."

Gould and the National Academies committee counter the criticism with a quote from a speech given in 1999 by former Agriculture Secretary Dan Glickman: " with all that biotechnology has to offer, it is nothing if it's not accepted. This boils down to a matter of trust. Trust in the science behind the process, but particularly trust in the regulatory process that ensures thorough review including complete and open public involvement."

"Secretary Glickman reminds us here that governing GE technology is more than just regulation," Gould said. "Public input is critical in order to build trust. We highlight this important advice in both the report's preface and the letter. It really gets to the heart of the issue."

Gould says that rather than simplistic approval or condemnation of GE crops, the report found that the social and economic effects of GE crops depended on whether the GE trait and the genetics of the cultivar it was put into matched the needs of the farmers and the farm environment.

The report also, in its discussion of regulating GE crops, concluded that it was not how a genetic change was made or even the amount of DNA that was altered that should be the focus of regulation. In the end, the report asserts, it is the plant characteristics that should be regulated. The committee concluded that these criteria applied as much to what are considered conventionally bred plants as to GE plants.

Gould adds that constituencies both for and against GE crops have weighed in on the report, making diametrically opposite claims about the report's findings. Some even suggested that there was no need for a report of this type.

"We welcome all public input into the report because these discussions are healthy and helpful," Gould said.

Explore further: Assessing the positive and negative claims about genetically engineered crops

More information: Fred Gould et al. Elevating the conversation about GE crops, Nature Biotechnology (2017). DOI: 10.1038/nbt.3841

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Among other things, many of the objections about genetically engineered foods come from the realization that, from the U.S.S. Maine, to claims of not flying spy planes over Russia, to the president turning the Oval Office into a cat house, to claiming there was mass production of banned weapons systems in Iraq, the government always lies, and the purpose is money or power of both. Saying "non-experts" don't get a vote ignores the fact that it was "non-experts" who discovered many things, including, for example, inoculation. It ignores the fact that, before any study was begun, everyone was a non-expert, and, if non-experts are not to be trusted, then no system of facts can be believed. It also ignores the fact that, in places like court trials, you can find "experts" who'll say anything you want.

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Committee responds to critique of gene engineering report - Phys.Org

MORRISTOWN, N.J., April 13, 2017 /PRNewswire/ --Significant knowledge gaps about gene therapies persist, despite surging interest and accelerating clinical development, according to new research presented by SmithSolve, a strategic communications agency specializing in rare and genetic disease,this week during the 2017 Gene Therapy for Rare Diseases conference hosted by the New York Academy of Sciences. The findings were summarized in a poster titled, Enhancing Awareness and Understanding of Gene Therapy among Rare Disease Communities: A Research-Driven Roadmap.

Researchers conducted a multifaceted study that included an analysis of peer-reviewed literature, a series of industry expert interviews, a patient and caregiver survey, and a one-year audit of social and traditional media coverage and conversation about gene therapy. Among the more notable findings:

"The gene therapy revolution is well underway, bringing with it a potentially massive shift in how we treat disease," said lead researcher Chris Smith, president and chief executive officer of SmithSolve. "Yet, despite the promise of gene therapy, our research identified a clear need for improved education and outlines a roadmap that all stakeholders can use to improve communication about this incredibly complex area of medicine."

Smith listed several opportunities to help bridge the informational gap and promote enhanced understanding of gene therapies. These include securing alignment among all stakeholders, establishing a common nomenclature, and fostering realistic expectations.

"Across dozens of rare genetic diseases, we are learning that early intervention leads to improved outcomes," noted Maria Escolar, MD, MS, director of the Program for the Study of Neurodevelopment in Rare Disorders at Children's Hospital of Pittsburgh, and associate professor of Pediatrics at the University of Pittsburgh School of Medicine. "This finding provides strong motivation for patients, advocates, physicians, research institutions, and industry to join together to improve awareness of gene therapies, so understanding keeps pace with research."

"We hope our research spurs the kind of dialogue and collaboration we recommend, and we look forward to facilitating these efforts," added co-author Patti Engel, RN, BSN, of Engage Health in Eagan, Minn.

The authors initiated this research to address the needs of rare disease patient communities and to fulfill Patient Advocacy Certificate Training (PACT) requirements of the Professional Patient Advocates in Life Sciences (PPALS). To learn more about the survey findings, visit http://smithsolve.com/results/ready-for-a-revolution/.

About SmithSolveSmithSolve, based in Morristown, N.J., is a strategic communications firm exclusively serving the healthcare industry. The company specializes in the rare disease and orphan drug sectors and helps established as well as early-stage biopharmaceutical companies tell their corporate narratives and translate complex science across multiple stakeholders. Its hands-on, senior-level team provides a broad range of communications services spanning product and pipeline news, patient advocacy, media relations, corporate reputation, issues management, digital design, and more. Established in 2006, SmithSolve partners with an established network of independent public relations agencies to design and execute programs worldwide. SmithSolve is a founding member of the Rare Collective, a group of seasoned experts in orphan drug development (www.rarecollective.org). For more information, visit http://www.smithsolve.com.

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About Engage Health, Inc.Engage Health, based in Eagan, Minn., is an experienced marketdevelopmentfirm serving the pharmaceutical, biotechnology, and medical device sectors inthe commercialization of specialty medical products. The staff at Engage Health brings over 20 years of experience in understanding and developing rare disease markets.From market quantification, patient and caregiver identification/mapping, to critical market research, Engage helps clients make the right decisions in development to maximize the commercial success of rare disease and specialty products. Engage is a founding member of the Rare Collective, a group of seasoned experts in orphan drug development (www.rarecollective.org). For more information, visit http://www.engagehealth.com.

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/research-reveals-lingering-misconceptions-about-gene-therapy-as-promising-new-product-candidates-advance-300439670.html

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Research Reveals Lingering Misconceptions about Gene Therapy as Promising New Product Candidates Advance - Yahoo Finance