PUBLIC RELEASE DATE:

24-Jun-2014

Contact: Press Office news.office@admin.ox.ac.uk 44-186-528-0530 University of Oxford

Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say Oxford University researchers.

The researchers, funded in part by the Medical Research Council (MRC), have come up with a computer programme that recognises facial features in photographs; looks for similarities with facial structures for various conditions, such as Down's syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood.

Using the latest in computer vision and machine learning, the algorithm increasingly learns what facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes.

The researchers report their findings in the journal eLife. The study was funded by the MRC, the Wellcome Trust, the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC) and the European Research Council (ERC VisRec).

While genetic disorders are each individually rare, collectively these conditions are thought to affect one person in 17. Of these, a third may have symptoms that greatly reduce quality of life. However, most people fail to receive a genetic diagnosis.

'A diagnosis of a rare genetic disorder can be a very important step. It can provide parents with some certainty and help with genetic counselling on risks for other children or how likely a condition is to be passed on,' says lead researcher Dr Christoffer Nellker of the MRC Functional Genomics Unit at the University of Oxford. 'A diagnosis can also improve estimates of how the disease might progress, or show which symptoms are caused by the genetic disorder and which are caused by other clinical issues that can be treated.'

The team of researchers at the University of Oxford included first author Quentin Ferry, a DPhil research student, and Professor Andrew Zisserman of the Department of Engineering Science, who brought expertise in computer vision and machine learning.

Continued here:
Computer-aided diagnosis of rare genetic disorders from family snaps

PUBLIC RELEASE DATE:

24-Jun-2014

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, June 24, 2014Frederic D. Bushman, PhD's (University of Pennsylvania Perelman School of Medicine) early pioneering work in understanding how HIV reproduces by inserting its genetic material into the DNA of a host cell led to key advances in the ability to move pieces of DNA and whole genes between cells. In recognition of his scientific achievements and leadership in the field, Dr. Bushman is the recipient of a Pioneer Award from Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. Human Gene Therapy is commemorating its 25th anniversary by bestowing this honor on the leading 12 Pioneers in the field of cell and gene therapy selected by a blue ribbon panel* and publishing a Pioneer Perspective by each of the award recipients. The Perspective by Dr. Bushman is available on the Human Gene Therapy website.

In "Engineering the Human Genome: Reflections on the Beginning," Dr. Bushman recalls his research as a graduate student and postdoctoral fellow studying the regulatory mechanisms that control gene expression and identifying DNA binding proteins that virusessuch as the HIV retrovirususe to integrate into a host genome at targeted sites. Currently, retroviral delivery vectors are widely used for gene transfer in Human Gene Therapy. Dr. Bushman's research accomplishments have contributed to the development of new gene delivery vectors and to more effective and efficient methods of targeting them to integration sites, and have advanced the field of gene therapy.

"Rick's background in HIV biology was very useful in his current studies of retroviral and lentiviral vector integration," says James M. Wilson, MD, PhD, Editor-in-Chief of Human Gene Therapy, and Director of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia. "He brought to the field an incredibly sophisticated approach to assess integration sites, which has informed safety profiles."

###

*The blue ribbon panel of leaders in cell and gene therapy, led by Chair Mary Collins, PhD, MRC Centre for Medical Molecular Virology, University College London selected the Pioneer Award recipients. The Award Selection Committee selected scientists that had devoted much of their careers to cell and gene therapy research and had made a seminal contribution to the field--defined as a basic science or clinical advance that greatly influenced progress in translational research.

About the Journal

Human Gene Therapy, the official journal of the European Society of Gene and Cell Therapy, British Society for Gene and Cell Therapy, French Society of Cell and Gene Therapy, German Society of Gene Therapy, and five other gene therapy societies, is an authoritative peer-reviewed journal published monthly in print and online. Human Gene Therapy presents reports on the transfer and expression of genes in mammals, including humans. Related topics include improvements in vector development, delivery systems, and animal models, particularly in the areas of cancer, heart disease, viral disease, genetic disease, and neurological disease, as well as ethical, legal, and regulatory issues related to the gene transfer in humans. Its sister journals, Human Gene Therapy Methods, published bimonthly, focuses on the application of gene therapy to product testing and development, and Human Gene Therapy Clinical Development, published quarterly, features data relevant to the regulatory review and commercial development of cell and gene therapy products. Tables of content for all three publications and a free sample issue may be viewed on the Human Gene Therapy website.

Link:
Frederic Bushman, Ph.D. receives Pioneer Award for advancing therapeutic gene delivery methods

PUBLIC RELEASE DATE:

23-Jun-2014

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

Focal therapy for prostate cancer, in which only the tumor tissue is treated with cryoablation (freezing), can prolong life, result in less complications such as incontinence, and improve post-treatment quality of life. But the long-term effectiveness of focal treatments has not been well-studied. A new analysis that followed patients treated with optimized cryoablation of prostate cancer for an average of 10 years post-treatment is published in Journal of Men's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Men's Health website.

In the article "Long-Term Results Of Optimized Focal Therapy Of Prostate Cancer: Average 10-Year Follow-Up in 70 Patients," Gary Onik, MD, Carnegie Mellon University (Fort Lauderdale, FL), and coauthors found that long-term cancer control with focal cryoablation therapy was superior to radical whole gland treatments in patients at medium or high risk for disease-free survival.

###

About the Journal

Journal of Men's Health is the premier peer-reviewed journal published quarterly in print and online that covers all aspects of men's health across the lifespan. The Journal publishes cutting-edge advances in a wide range of diseases and conditions, including diagnostic procedures, therapeutic management strategies, and innovative clinical research in gender-based biology to ensure optimal patient care. The Journal addresses disparities in health and life expectancy between men and women; increased risk factors such as smoking, alcohol abuse, and obesity; higher prevalence of diseases such as heart disease and cancer; and health care in underserved and minority populations. Journal of Men's Health meets the critical imperative for improving the health of men around the globe and ensuring better patient outcomes. Tables of content and a sample issue can be viewed on the Journal of Men's Health website.

About the Societies

Journal of Men's Health is the official journal of the International Society of Men's Health (ISMH), American Society for Men's Health, Men's Health Society of India, and Foundation for Men's Health. The ISMH is an international, multidisciplinary, worldwide organization, dedicated to the rapidly growing field of gender-specific men's health.

Original post:
Is focal treatment for prostate cancer as effective in the long-term as radical therapies?

PUBLIC RELEASE DATE:

20-Jun-2014

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, June 20, 2014Spiral ganglion cells are essential for hearing and their irreversible degeneration in the inner ear is common in most types of hearing loss. Adult spiral ganglion cells are not able to regenerate. However, new evidence in a mouse model shows that spiral ganglion stem cells present in the inner ear are capable of self-renewal and can be grown and induced to differentiate into mature spiral ganglion cells as well as neurons and glial cells, as described in an article in BioResearch Open Access, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the BioResearch Open Access website.

Marc Diensthuber and coauthors from Goethe-University (Frankfurt, Germany), Justus-Liebig University (Giessen, Germany), Harvard Medical School and Massachusetts Eye and Ear Infirmary (Boston, MA), and Harvard University and MIT (Cambridge, MA), conclude that the self-renewing properties demonstrated by spiral ganglion stem cells make them a promising source of replacement cells for therapies designed to regenerate the neural structures of the inner ear in the article "Spiral Ganglion Stem Cells Can Be Propagated and Differentiated Into Neurons and Glia."

"These findings are particularly interesting as they show that spiral ganglion stem cells can be propagated in vitro," says BioResearch Open Access Editor Jane Taylor, PhD, MRC Centre for Regenerative Medicine, University of Edinburgh, Scotland. "These cells are normally poorly regenerated in the mammalian ear."

###

About the Journal

BioResearch Open Access is a bimonthly peer-reviewed open access journal led by Editor-in-Chief Robert Lanza, MD, Chief Scientific Officer, Advanced Cell Technology, Inc. and Editor Jane Taylor, PhD. The Journal provides a new rapid-publication forum for a broad range of scientific topics including molecular and cellular biology, tissue engineering and biomaterials, bioengineering, regenerative medicine, stem cells, gene therapy, systems biology, genetics, biochemistry, virology, microbiology, and neuroscience. All articles are published within 4 weeks of acceptance and are fully open access and posted on PubMed Central. All journal content is available on the BioResearch Open Access website.

About the Publisher

Follow this link:
Inner ear stem cells hold promise for restoring hearing

PUBLIC RELEASE DATE:

19-Jun-2014

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, June 19, 2014Plasminogen activators are proteins involved in the breakdown of blood clots, and an elevated level of plasminogen activator inhibitor-1 (PAI-1) is associated with an increased risk for clotting and cardiovascular disease. No PAI-1 inhibitors are currently available for clinical use, but a novel therapeutic approach using a targeted RNA aptamer drug that has been shown to block PAI-1 activity and prevent PAI-1-associated vascular events is described in Nucleic Acid Therapeutics, a peer-reviewed journal from Nucleic Acid Therapeutics. The article is available free on the Nucleic Acid Therapeutics website.

Jared Damare, Stephanie Brandal, and Yolanda Fortenberry, Johns Hopkins University School of Medicine, Baltimore, MD, designed a library of small RNA molecules that target different regions of PAI-1. They then screened the library and enriched for the aptamers that were the most selective for binding to and inhibiting the function of PAI-1. The authors demonstrate the ability of these RNA aptamers to prevent PAI-1 from interacting with plasminogen activators in the article "Inhibition of PAI-1 Antiproteolytic Activity Against tPA by RNA Aptamers."

"Even beyond the admirable care and rigor of the work, the therapeutic significance lies in the authors addressing a vital concern: the identification of an aptamer that can specifically disrupt the target function of PAI-1 without inhibiting its other functions," says Executive Editor Graham C. Parker, PhD, The Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI.

Nucleic Acid Therapeutics is under the editorial leadership of Co-Editors-in-Chief Bruce A. Sullenger, PhD, Duke Translational Research Institute, Duke University Medical Center, Durham, NC, and C.A. Stein, MD, PhD, City of Hope National Medical Center, Duarte, CA; and Executive Editor Graham C. Parker, PhD.

###

About the Journal

Nucleic Acid Therapeutics is an authoritative, peer-reviewed journal published bimonthly in print and online that focuses on cutting-edge basic research, therapeutic applications, and drug development using nucleic acids or related compounds to alter gene expression. Nucleic Acid Therapeutics is the official journal of the Oligonucleotide Therapeutics Society. A complete table of contents and free sample issue may be viewed on the Nucleic Acid Therapeutics website.

Read the rest here:
RNA aptamers targeted to plasminogen activator inhibitor

PUBLIC RELEASE DATE:

19-Jun-2014

Contact: Sophie Mohin Smohin@liebertpub.com 914-740-2254 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, June 19, 2014An innovative system using automated 3D printing technology and advanced digital tools to create customized, prefabricated ceramic building blocks, called PolyBricks, is enabling the construction of mortar-less brick building assemblies at much greater scales than was previously possible. The new techniques that use 3D printers to produce modular ceramic bricks from a single material that then interlock and assemble easily into larger units for architectural applications are described in an article in 3D Printing and Additive Manufacturing (3DP), a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free online on the 3D Printing and Additive Manufacturing website.

Jenny Sabin, Martin Miller, Nicholas Cassab, and Andrew Lucia, of Sabin Design Lab, Cornell University (Ithaca, NY) and Jenny Sabin Studio (Philadelphia, PA), provide a detailed description of the computational design techniques they developed for the digital fabrication and production of ceramic PolyBrick components. The authors explain how they used available 3D printing technology to produce mass customized components in the article PolyBrick: Variegated Additive Ceramic Component Manufacturing (ACCM)"

"This work offers an exciting new alternative approach for 3D printing at architectural scales, without requiring the large infrastructure that most current methods require. It could open the door to many new applications" says Editor-in-Chief Hod Lipson, PhD, Director of Cornell University's Creative Machines Lab at the Sibley School of Mechanical and Aerospace Engineering, Ithaca, NY.

###

About the Journal

3D Printing and Additive Manufacturing (3DP) is a peer-reviewed journal published quarterly in print and online. The Journal facilitates and supports the efforts of engineers, software developers, architects, lawyers, Deans and academic chairpersons of engineering and business schools, technology transfer specialists, chief research officers and vice presidents of research in government, industry, and academia, medical professionals, venture capitalists, and entrepreneurs. Spanning a broad array of disciplines focusing on novel 3D printing and rapid prototyping technologies, policies, and innovations, the Journal brings together the community to address the challenges and discover new breakthroughs and trends living within this groundbreaking technology. Complete tables of content and a sample issue may be viewed at the 3D Printing and Additive Manufacturing (3DP) website.

About the Publisher

Link:
New digital fabrication technique creates interlocking 3D-printed ceramic PolyBricks