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CA-San Diego, Compliance / Quality Manager. BTS Research a well-established, diverse, stable yet growing CRO in beautiful San Diego is seeking a highly motivated, detail orientated, well organized, and highly skilledManager, Quality Assurance and Compliance who loves overcoming challenges, enjoys creating and maintaining positive team relationships and shares our passion for innovation, quality work and produci
We are looking for an experienced QA/QC Supervisor/Manager with 5+ years’ experience in the food industry, ingredients preferred. Duties include:
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Excellent attention to detail. Maker, Excel experience preferred Knowledgeable of biotech industry and competitors….
From netPolarity – 20 Oct 2014 18:17:07 GMT
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SAN DIEGO, Oct. 20, 2014 /PRNewswire/ – Cypher Genomics, Inc., the genome informatics company, announced today the identification of de novo KCNB1 missense mutations as a novel genetic cause of severe epileptic encephalopathy. Cypher’s co-founder and Chief Scientific Officer Ali Torkamani, Ph.D. reviewed the data today at a platform presentation at the ASHG 2014 meeting being held October 18 to 22 in San Diego. This study highlights how Cypher’s MantisTM technology, which incorporates commercial access to the Scripps Wellderly Cohort as a genome reference population, can rapidly and accurately identify novel causes of rare diseases.
“Rare diseases disproportionately affect children, and families are left with unanswered questions and monumental medical bills in seeking a diagnosis,” said Ashley Van Zeeland, Ph.D., co-founder and Chief Executive Officer of Cypher Genomics. “Accurate genome analysis and interpretation has historically been a time consuming and manual process. We developed Mantis to address this unmet need in order to rapidly and accurately find the underlying genetic causes of disease.”
The data presented today describes an 8-year-old female patient who presented with a sporadic severe partial seizure disorder and a complex and unusual medical history of neurologic disorder, which did not fit any diagnostic category. A family-based genome sequencing study was performed including whole genome sequencing and whole exome sequencing.
Researchers utilized Mantis to identify a de novo missense mutation in KCNB1 that encodes the KV2.1 voltage-gated potassium channel as the potential cause of the patient’s disorder. This was further verified and confirmed by functional studies showing a deleterious effect of the mutation on KV2.1 function leading to a loss of ion selectivity and gain of a depolarizing inward cation conductance. Subsequently, two additional patients with epileptic encephalopathy and de novo KCNB1 missense mutations that result in a similar pattern of KV2.1 dysfunction were identified.
“While each rare disease only affects a small group of patients, millions of patients around the world are affected by a rare disease, and many never receive a definitive diagnosis,” said Dr. Van Zeeland. “Cypher’s Mantis technology was developed to help clinicians give patients and families an answer to what is causing their disease and what treatments may help.”
For researchers and clinicians, Cypher is launching a limited-time, trial access program, called Mantis 5-for-5. To learn more and sign up, visit Cypher at ASHG 2014 at booth #1525 or click here. In addition, Cypher has a second platform presentation tomorrow. Abstract 317: Frequency of “ACMG-56″ Variants in Whole Genomes of Healthy Elderly will be presented by Lauren Ariniello on Tuesday, October 21 from 10:30 am to 12:30 pm in Room 29, upper level of the San Diego Convention Center.
About Cypher Genomics
Cypher Genomics is a leading genome informatics company offering a highly accurate, rapid and robust interpretation software solution for users of human genome sequencing. The proprietary, automated genomic interpretation platform allows clinical laboratories to tune Cypher Genomics’ market leading sensitivity and specificity profiles to develop molecular tests for diagnostic and prognostic use and pharmaceutical companies to discover biomarkers from whole genome sequence data in sample sizes typical of early stage drug development studies. Through MantisTM, the genome interpretation software as a service offering, and CoralTM, a biomarker discovery service, Cypher Genomics can improve health care and reduce costs by facilitating improved diagnostic accuracy and earlier interventions, optimizing therapeutic approaches and reducing adverse drug reactions. Cypher Genomics is located in San Diego, California.
For more information about Cypher Genomics, visit www.cyphergenomics.com and connect with us on Twitter @cyphergenomics.
To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/cypher-genomics-identifies-and-verifies-genetic-cause-of-rare-disease-epileptic-encephalopathy-761698313.html
SOURCE Cypher Genomics, Inc.
UC San Diego Sanford Stem Cell Clinical Center is pushing therapeutic stem cell-based science out of the laboratory and closer to real-world medical applications. The unprecedented trials involve potential therapies for spinal cord injuries, Type 1 diabetes and chronic lymphocytic leukemia.
We are currently looking for a Purchasing Associate to work for a leading San Diego biotechnology company. Bio…. $32,000 – $45,000 a year
From BioPhase Solutions – 20 Oct 2014 17:25:18 GMT
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BOSTON and CAMBRIDGE, Mass., Oct. 20, 2014 /PRNewswire/ – The Global Alliance for Genomics and Health convened its second major meeting of 2014 on Saturday, bringing together more than 250 international leaders to collaborate on the development of innovative solutions to accelerate sharing of genomic and clinical data. At their plenary meeting, held in San Diego, California, Alliance members shared progress to date and discussed next steps for the effort.
The Global Alliance is an international coalition of over 140 member organizations dedicated to improving human health by maximizing the potential of genomic medicine. The group’s diverse membership includes world-leading institutions in healthcare, research, patient and disease advocacy, life science, and information technology who are working together on open interfaces and catalytic projects to enable effective and responsible data sharing and guide this quickly evolving field. The Alliance is supported by a small number of Host Institutions, including the Broad Institute of Harvard and MIT.
“The Global Alliance is focused on developing approaches that will enable sharing of genomic and clinical data. In just over one year, we have established a vibrant international effort to accelerate progress in harmonizing regulations and ethics, methods for sharing genomic and clinical data, and approaches to privacy and security,” said David Altshuler, Chair of the Global Alliance Steering Committee and Deputy Director of the Broad Institute of Harvard and MIT. “Our members are dedicated to producing work products and to undertaking data sharing projects that break down barriers and increase learning from data.”
Following its formation in 2013, the Global Alliance has sparked collaboration that involves hundreds of stakeholders globally and released several major products, including a regulatory Framework to guide the responsible sharing of genomic and health-related data and a GA4GH Genomics API to streamline specific technical aspects of data sharing and allow for more seamless exchange globally.
The Alliance’s plenary meeting coincided with the Annual Meeting of the American Society of Human Genetics (ASHG), and the Global Alliance will also hold an information session for ASHG attendees on Monday, October 20.
“Our field is rapidly evolving, and the Global Alliance continues to be at the forefront of efforts to create harmonized approaches and catalyze projects that drive research forward,” said Cynthia Morton, President of ASHG. “We believe that this international partnership will be highly effective in unlocking potential advancements in human health, and we’re excited to contribute substantially to the capabilities, capacity, and progress of the Global Alliance in the coming years.”
In addition to highlighting best practices and developing targeted methods to advance responsible data sharing, Alliance members are advancing data sharing projects to demonstrate value and promote real-world learning. These include a global BRCA Challenge, which aims to learn from genotype and phenotype data from many studies without compromising patient privacy, thereby increasing the ability to interpret BRCA1 and BRCA2-related cancer risks. Another example is the Matchmaker Exchange project, designed to help patients and doctors grappling with rare genotypes and phenotypes to overcome siloed data, find one another through a federated architecture, and work together.
“The Global Alliance’s work will allow researchers and clinicians to tap into the power of data networks on a global scale,” said Keith Yamamoto, Vice Chancellor for Research and Executive Vice Dean of the School of Medicine at the University of California, San Francisco (UCSF), who gave opening remarks at the meeting. “The Alliance is expanding the boundaries of data sharing to improve human health, while promoting meaningful standards. The field needs this effort as we move forward and work to harness the transformational potential of biomedicine.”
On September 18, 2014 the Global Alliance adopted a Constitution to formally guide and govern the structure and membership criteria of the organization. In less than a month, more than 135 organizations of the over 200 that had originally signed a Letter of Intent have already transitioned to full members of the Global Alliance for Genomics and Health. It is expected that many more organizations and individuals will do so in the coming months.
“At a time of rapid change, the Global Alliance is coming together for our second plenary meeting in San Diego to look ahead to our next steps and achievable goals in the next few years,” said Martin Bobrow, Vice Chair of the Global Alliance Steering Committee and Emeritus Professor of Medical Genetics at the University of Cambridge. “As was evident at this critical meeting, the Global Alliance will continue to promote international collaboration to identify, develop, and promulgate innovative approaches to data sharing and to support efforts already underway.”
The Global Alliance for Genomics and Health is an international, non-profit alliance formed to help accelerate the potential of genomic medicine to advance human health. The Alliance is currently hosted by the Broad Institute of Harvard and MIT, the Ontario Institute of Cancer Research, and the Wellcome Trust Sanger Institute. Bringing together over 140 leading organizations working in healthcare, research, disease and patient advocacy, life science, and information technology, partners in the Global Alliance are working together to create a common framework of standards and harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data. Learn more at: http://genomicsandhealth.org.
To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/global-alliance-for-genomics-and-health-members-meet-to-advance-genomic-data-sharing-359076689.html
SOURCE Global Alliance for Genomics and Health; Broad Institute
CA-Carlsbad, Park Computer Systems, Inc., a leading Technology Consulting and Staffing Company, is looking for a Senior HFM Analyst for our client, a large Biotech organization. Mention below is the job details: Req# 0692 Location: Carlsbad, CA Start 10/01/2014 End 04/01/2015 Hours Per Week 40.00 Hours Per Day 8.00 Job Category Accounting / Finance Job Title Senior HFM Analyst Duties HFM specialist Performed H
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