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Yao R.,Shanghai JiaoTong University | Wang L.,Xinhua Hospital | Yu Y.,Xinhua Hospital | Wang J.,Shanghai JiaoTong University | And 3 more authors.
Journal of Dermatology | Year: 2016

Neurofibromatosis 1 (NF1) is a common autosomal dominant condition caused by mutations in the NF1 gene. The appearance of multiple café-au-lait macules is an early sign of the condition, which often alert physicians to follow up and further examine the patient for the possibility of NF1. In order to determine the predictive value of multiple café-au-lait macules at early age for NF1 in Chinese patients, we recruited 19 children who shared the common sign of multiple café-au-lait macules from a general pediatric clinic in Shanghai. All the patients were clinically evaluated following the National Institutes of Health criteria for NF1 and molecular tested for sequence variants and copy number changes. Nine children met the clinical diagnostic criteria of NF1, and molecular tests confirmed all nine patients with pathogenic variants including two genomic deletions, two novel frame-shift variants, four novel nonsense and a splicing variants. In addition, four children who did not meet the diagnostic criteria were also found to carry pathogenic NF1 variants. Overall, 68.4% (13/19) of children with café-au-lait macules and various other clinical presentations were molecularly confirmed with NF1. This study demonstrated that the majority of Chinese children with multiple café-au-lait macules who came to seek for medical attention had NF1. Molecular testing is necessary to be used as an adjunct and sometimes as the main tool for confirming and diagnosing children of NF1 at early age. © 2015 Japanese Dermatological Association.


PubMed | Guangxi Maternal and Child Health Hospital, Shanghai JiaoTong University and Claritas Genomics
Type: | Journal: Molecular and cellular endocrinology | Year: 2016

Mutations in Thyroglobulin (TG) are common genetic causes of congenital hypothyroidism (CH). But the TG mutation spectrum and its frequency in Chinese CH patients have not been investigated. Here we conducted a genetic screening of TG gene in a cohort of 382 Chinese CH patients. We identified 22 rare non-polymorphic variants including six truncating variants and 16 missense variants of unknown significance (VUS). Seven patients carried homozygous pathogenic variants, and three patients carried homozygous or compound heterozygous VUS. 48 out of 382 patients carried one of 18 heterozygous VUS which is significantly more often than their occurrences in control cohort (P<0.0001). Unique to Asian population, the c.274+2T>G variant is the most common pathogenic variant with an allele frequency of 0.021. The prevalence of CH due to TG gene defect in Chinese population was estimated to be approximately 1/101,000. Our study uncovered ethnicity specific TG mutation spectrum and frequency.


Kirkpatrick B.E.,Geisinger Health System | Riggs E.R.,Geisinger Health System | Azzariti D.R.,Molecular Partners | Miller V.R.,PatientCrossroads | And 9 more authors.
Human Mutation | Year: 2015

As the utility of genetic and genomic testing in healthcare grows, there is need for a high-quality genomic knowledge base to improve the clinical interpretation of genomic variants. Active patient engagement can enhance communication between clinicians, patients, and researchers, contributing to knowledge building. It also encourages data sharing by patients and increases the data available for clinicians to incorporate into individualized patient care, clinical laboratories to utilize in test interpretation, and investigators to use for research. GenomeConnect is a patient portal supported by the Clinical Genome Resource (ClinGen), providing an opportunity for patients to add to the knowledge base by securely sharing their health history and genetic test results. Data can be matched with queries from clinicians, laboratory personnel, and researchers to better interpret the results of genetic testing and build a foundation to support genomic medicine. Participation is online, allowing patients to contribute regardless of location. GenomeConnect supports longitudinal, detailed clinical phenotyping and robust "matching" among research and clinical communities. Phenotype data are gathered using online health questionnaires; genotype data are obtained from genetic test reports uploaded by participants and curated by staff. GenomeConnect empowers patients to actively participate in the improvement of genomic test interpretation and clinical utility. © 2015 Wiley Periodicals, Inc.


PubMed | Boston Childrens Hospital, Claritas Genomics and Harvard University
Type: Case Reports | Journal: American journal of medical genetics. Part A | Year: 2016

Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here, we report on two children with CNVs in 16p13.11 that developed psychosis before the age of 7. The genotype and neuropsychiatric abnormalities of these patients highlight several overlapping genes that have possible mechanistic relevance to pathways previously implicated in Autism Spectrum Disorders, including the mTOR signaling and the ubiquitin-proteasome cascades. A careful screening of the 16p13.11 region is warranted in patients with childhood onset psychosis.


PubMed | Claritas Genomics and Harvard University
Type: | Journal: Scientific reports | Year: 2016

Next generation sequencing is a transformative technology for discovering and diagnosing genetic disorders. However, high-throughput sequencing remains error-prone, necessitating variant confirmation in order to meet the exacting demands of clinical diagnostic sequencing. To address this, we devised an orthogonal, dual platform approach employing complementary target capture and sequencing chemistries to improve speed and accuracy of variant calls at a genomic scale. We combined DNA selection by bait-based hybridization followed by Illumina NextSeq reversible terminator sequencing with DNA selection by amplification followed by Ion Proton semiconductor sequencing. This approach yields genomic scale orthogonal confirmation of ~95% of exome variants. Overall variant sensitivity improves as each method covers thousands of coding exons missed by the other. We conclude that orthogonal NGS offers improvements in variant calling sensitivity when two platforms are used, better specificity for variants identified on both platforms, and greatly reduces the time and expense of Sanger follow-up, thus enabling physicians to act on genomic results more quickly.


LifeScienceIndustryResearch.com adds Personalized Medicine, Targeted Therapeutics & Companion Diagnostic Market to 2019 research report published in July 2015 to the pharmaceuticals intelligence collection of its library. Complete report on personalized medicine market spread across 279 pages, talking about 15 major companies and supported with 317 tables and figures is now available at http://www.lifescienceindustryresearch.com/personalized-medicine-targeted-therapeutics-companion-diagnostic-market-to-2019.html . Personalized Medicine, Targeted Therapeutics and Companion Diagnostic Market - A Strategic Analysis of Industry Trends, Technologies, Participants, and Environment to 2019 research report provides a comprehensive account of the market size, segmentation, key players, SWOT analysis, influential technologies, and business and economic environments. The global personalized medicine market is presented by company (e.g., Qiagen, Affymetrix, Atossa Genetics, Nodality, Celera, Myriad), by geography (US, UK, Global), by segment (Targeted therapeutics, Companion Diagnostics), by sub-market (Companion diagnostic, targeted cancer therapeutic, medical technology, pharmacogenomics, consumer This report tackles key concerns to the personalized medicine market such as lack of regulatory policy and legislation in the US and Europe, reimbursement schemes and payers concerns, transition of investigational diagnostic assays and therapeutics to clinical practice and direct to consumer (DTC) test kits and implications for the public. This research provides an in-depth understanding of the global personalized medicine market and its environment with current market facts, figures and product lines of key players in the industry. Emerging trends in key markets such as the US, UK, Germany and France are covered along with knowledge of how the personalized medicine market will integrate into the global healthcare market. Technical insights into new generation sequencing technologies and ultra-high throughput sequencing are a part of this research supported with updates on bioinformatics, high throughput systems, genetic analysis kits, companion diagnostics and future technologies. FDA approved pharmacogenetic tests and recognized biomarkers, information on key government and regulatory policies as well as strategies on how to adapt and restructure current business models to this industry are also discussed. This personalized medicine market 2015 research highlights a number of significant pharmacos and gives details of their operations, products, financials and business strategy. Companies discussed include 23andMe, Affymetrix, Astex Pharmaceuticals, Atossa Genetics, CuraGen, Celera Corporation (Quest Diagnostics), Celldex Therapeutics, deCode Genetics (Amgen), Illumina, Genelex, Myriad, Nodality, Qiagen, Admera Health (GeneWiz) and Claritas Genomics. Order a copy of Personalized Medicine, Targeted Therapeutics & Companion Diagnostic Market to 2019 research report at http://www.lifescienceindustryresearch.com/purchase?rname=44597 . SWOT, Economic & Regulatory Environment specifics included in this personalized medicine market report include key strengths, weaknesses and threats influencing leading player position within the market; Technologies driving the market (e.g., New-Generation Sequencing Technologies, Ultra-High Throughput Sequencing); Top fastest growing market segments and emerging opportunities; Top pharmaceutical companies within the IPM by market share and revenue; Comprehensive product portfolios, R&D activity and pipeline therapeutics; M&A activity and future strategies of top personalized medicine pharmacos; Personalized Medicine Regulation (UK, Germany, France, Spain, Italy); CE-marked Personalized Medicine/Diagnostic Tests and FDA Advances in Personalized Medicine Regulation. This 2015 personalized medicine market report is beneficial for pharmaceutical, biotechnology and diagnostic companies with an interest in personalized medicine, industry professionals and business strategists will discover key information to propel their policies, investors will gain inside information to dominant players in the industry and future forecasts and scientists will get a business perspective and industry insight into how scientific breakthroughs influence the market environment. On a related note, the Personalized Medicine Partnering Terms and Agreements market research report provides comprehensive understanding and unprecedented access to the personalized medicine partnering deals and agreements entered into by the world's leading healthcare companies. The report provides a detailed understanding and analysis of how and why companies enter personalized medicine partnering deals. The majority of deals are discovery or development stage whereby the licensee obtains a right or an option right to license the licensors personalized medicine technology. These deals tend to be multicomponent, starting with collaborative R&D, and commercialization of outcomes. This report contains over 1000 links to online copies of actual personalized medicine deals and contract documents as submitted to the Securities Exchange Commission by companies and their partners. Contract documents provide the answers to numerous questions about a prospective partner's flexibility on a wide range of important issues, many of which will have a significant impact on each party's ability to derive value from the deal. In addition, a comprehensive appendix is provided organized by personalized medicine partnering company A-Z , deal type, and therapy type. Each deal title links via Weblink to an online version of the deal record and where available, the contract document, providing easy access to each contract document on demand.  Comprehensive Table of Contents and more on the personalized medicine partnering terms and agreements report is available at http://www.lifescienceindustryresearch.com/personalized-medicine-partnering-terms-and-agreements.html . A third research, titled Deals in Oncology Personalized Medicine Industry - Worldwide Analysis is a report provides comprehensive understanding and unprecedented access to the partnering deals and agreements entered into by the world's leading healthcare companies in oncology sector. All the deals have been tracked year wise. All the deals have been covered under different chapters in below mentioned topics. Complete report is available at http://www.lifescienceindustryresearch.com/deals-in-oncology-personalized-medicine-industry-worldwide-analysis.html . Explore more reports on the pharmaceuticals market at http://www.lifescienceindustryresearch.com/category/pharmaceuticals . About Us: Life Science Industry Research brings to you to the latest reports in market research on Biotechnology, Diagnostics, Healthcare, Medical Devices and Pharmaceuticals segments from leading research publishers across the globe. These reports also cover data and information on sub-segments and sectors under these life sciences categories.


News Article | January 11, 2013
Site: www.xconomy.com

The life sciences industry was focused on the west coast, not the east, this week. Virtually all of the industry’s movers, shakers, and wannabes were at the 31st Annual JP Morgan Healthcare Conference in San Francisco Jan 7-9. My colleague Luke Timmerman will be combing his notebooks for features from this premier industry meeting for weeks to come, but there was plenty of news made at the meeting, some of it by companies near the Atlantic. —Biopharma companies always love to announce deals at JP Morgan, and this year was no different. Cambridge, MA-based BIND Biosciences of Cambridge, MA had one of the biggest: Amgen (NASDAQ: AMGN) of Thousand Oaks, CA, will invest as much as $180.5 million, and possibly more in future product royalties, under a joint drug development effort using the startup’s nanomedicine technology. BIND CEO Scott Minick told me that the deal represents a validation for nanomedicine and predicts other large pharma companies will now move into the field. — Foundation Medicine, also in Cambridge, announced at the meeting that Microsoft billionaire Bill Gates and Russian billionaire Yuri Milner joined a $13.5 million expansion of its Series B financing. Foundation is developing genomic technology to improve cancer care. —Another Cambridge startup, Lotus Tissue Repair, used the meeting to announce that it was acquired for an undisclosed sum by … Next Page »


News Article | May 18, 2015
Site: www.businesswire.com

CAMBRIDGE, Mass.--(BUSINESS WIRE)--AOBiome today announced three appointments to its senior management team to advance the company’s business to develop first-in-class skin health products based on Ammonia Oxidizing Bacteria (AOB). Joining the company are: Ramesh Ratan, Chief Financial Officer (CFO); Todd Krueger, Chief Business Officer (CBO); and Jim Hoffman, Head of Marketing. “Ramesh, Todd, and Jim each bring decades of experience in leadership positions and outstanding track records in building and growing entrepreneurial biomedical and technology organizations,” said Spiros Jamas, ScD, CEO of AOBiome. “Our expanded management team positions us for our next stage of growth as we prepare to begin clinical trials with our first AOB-based therapeutic, for the treatment of acne, and accelerate the commercialization of our cosmetic business.” Mr. Ratan has more than 35 years of experience in senior or executive vice president finance and operations positions at companies developing innovative biomedical technologies, including Xcellerex, Inc., Enanta Pharmaceuticals, Repligen Corp., and at technology companies such as American Superconductor Corporation, and Equinox Solutions, Inc. He continues to serve as CFO and Corporate Secretary at ABOVE Solutions Inc. He has been instrumental in raising over $150 million and negotiating numerous corporate alliances. He also held finance positions at Bristol-Myers Squibb. Mr. Krueger has 20-years of experience in healthcare strategy, business development, operations and finance. He most recently led commercial efforts for the genomics platform at the Broad Institute. Previously, Mr. Krueger held senior positions at Claritas Genomics and Life Technologies. He has also been involved in the founding of several biotech startups, including Gynesonics, Nodality, Anestis Therapeutics and in 1999 he co-founded Fluidigm Corporation (NASDAQ:FLDM), serving as CFO and Vice President of Business Development. He serves on the board of directors of GALT, a microbiome tools startup. He started his career as a consultant for Bain and Company in Boston. Mr. Krueger graduated Highest Distinction from Northwestern University with a degree in Economics and earned his MBA from the Kellogg School of Management. Mr. Hoffman joins AOBiome after a more than 35-year career as an entrepreneur leading companies to success in technology and marketing. He is a recognized expert industry source on issues affecting interactive marketing, web trends and standards. Mr. Hoffman has founded more than ten companies, including Section 101, which creates new revenue streams for major artists and brands by maximizing the value of their existing fans and by growing the customer base using a deep understanding of the target customer profile. He is also a founder of Bigfoot.com (sold in 2000), an email provider and web directory, and several spin outs: Bigfoot Interactive (sold in 2001), an e-mail direct marketing company and NeoPlanet (sold in 2005), a graphical web browser. He has also served President and CEO of Journal Graphics, Inc., the nation’s largest broadcast transcript company. AOBiome LLC is developing a transformative, new class of products based on Ammonia Oxidizing Bacteria (AOB) to improve skin health and prevent or treat skin and inflammatory diseases. The company’s probiotics are designed to provide cosmetic and therapeutic benefits by restoring the natural, protective balance afforded by beneficial skin microbes that have been lost due to modern living practices, including antibiotic use, soaps, and shampoos. AOB are ubiquitous bacteria that use oxidize ammonia and urea, two components in sweat, to produce nitrite, an anti-microbial compound, and nitric oxide, an important signaling molecule that helps the body manage skin and systemic functions. AOBiome is developing cosmetics and a pipeline of patented skin therapeutics to treat acne, rosacea and other inflammatory skin diseases. The company was established in 2013 by its scientific founder, David Whitlock; biotech entrepreneur James Heywood, Co-founder of PatientsLikeMe and Founder of the ALS Therapy Development Institute; Lenny Barshack, a serial entrepreneur of technology companies; and Dr. Jamas. Learn more at www.AOBiome.com


Today about 1 in 10 Americans suffer from a rare disease, and half of these patients are children, according to the Global Genes Project. There are some 7,000 known rare disorders ranging from benign abnormalities to life-threatening disease. Many affected children pass away before a diagnosis can be made, leaving families to grieve without knowing what might have been done to help them, or how to avoid additional brothers or sisters being affected. At Boston Children's, investigators at The Manton Center for Orphan Disease Research are focused on diagnosing children with a wide variety of rare genetic conditions. While strides have been made, the interpretation of sequencing results can be a labor-intensive process, presenting an overload of information whose analysis may not always yield a definitive causative variant. In the new collaboration, Watson will be trained in nephrology by reading related medical literature and aggregating information on causative mutations for steroid-resistant nephrotic syndrome (SRNS), a rare genetic form of kidney disease. Then, experts at Boston Children's Hospital intend to feed genomic sequencing data from retrospective patients into Watson to further train the system. The goal is to create a cognitive system that can help clinicians interpret a child's genome sequencing data, compare this with medical literature and quickly identify anomalies that may be responsible for the unexplained symptoms. "Coping with an undiagnosed illness is a tremendous challenge for many of the children and families we see," said Christopher Walsh, MD, PhD, director of the Division of Genetics and Genomics at Boston Children's Hospital. "Watson can help us ensure we've left no stone unturned in our search to diagnose and cure these rare diseases so we can uncover all relevant insights from the patient's clinical history, DNA data, supporting evidence and population health data." Even with a diagnosis, effective treatment for rare conditions can be elusive. For example, SRNS are usually unresponsive to immunosuppressive therapy, and often must go on chronic dialysis or wait for a kidney transplant—only to have their disease frequently recur in the new organ. "One of Watson's talents is quickly finding hidden insights and connecting patterns in massive volumes of data," said Deborah DiSanzo, general manager, IBM Watson Health. "Rare disease diagnosis is a fitting application for cognitive technology that can assimilate different types and sources of data to help doctors solve medical mysteries. For the kids and their families suffering without a diagnosis, our goal is to team with the world's leading experts to create a cognitive tool that will make it easier for doctors to find the needle in the haystack, uncovering all relevant medical advances to support effective care for the child." The kidney project will be done in collaboration with Friedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children's and Claritas Genomics. Following its successful completion, Boston Children's plans to expand the effort into undiagnosed neurologic disorders and other disease areas studied by The Manton Center, improving diagnostic and treatment services for patients nationwide. Boston Children's Hospital is part of the Undiagnosed Diseases Network, a NIH program that aims to solve medical mysteries by integrating genetics, genomics, and rare disease expertise. Boston Children's was also the incubator behind Claritas Genomics, a genetic diagnostic laboratory that offers genetic testing and develops new diagnostic tests and solutions, and organizer of the CLARITY Undiagnosed Challenge, a crowd sourcing competition seeking best practices in clinical genomics. The results and winner of the Challenge will be announced at the Boston Children's Hospital Global Pediatric Innovation Summit on November 10. IBM has been developing Watson's ability to analyze genomic data in collaboration with leading cancer centers around the world. The system is currently being used at 16 cancer institutes to analyze and translate genomic data to help oncologists uncover personalized treatment options. The new project with Boston Children's represents the first time this technology will be applied to help clinicians efficiently identify possible options for rare disease diagnosis and treatment. IBM and Boston Children's are also working together to build OPENPediatrics, an online platform designed to bring life-saving medical knowledge to pediatric caregivers worldwide. In September, the two organizations announced they will integrate Watson's deep and iterative question and answer capability to enhance and scale the OPENPediatrics initiative. Explore further: Project will apply cognitive computing to uncover new patient treatment options

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