An international team that includes researchers at Sahlgrenska Academy has found a new genetic cause of osteoporosis. The findings set the stage for eventually curing the disease.
Osteoporosis is a common condition that leads to fractures with half of all women experiencing a fracture during their lifetime.
The discovery of a genetic variant has permitted researchers to link a particular gene to bone density and fractures. Follow-up studies have described the mechanisms by which the protein coded by the gene affects bone density.
Sahlgrenska Academy Professor Claes Ohlsson, who participated in the study, says, “Given that the EN1 gene has never been associated with osteoporosis before, we have a brand new pathway for developing drugs that can inhibit the condition.”
Directed by Canadian scientists, the international study initially examined highly detailed genetic data from 10,000 individuals and subsequently replicated the EN1 discovery in 500,000 others. The inclusion of so many subjects allowed the researchers to establish correlations between rare genetic changes and pathological conditions.
“The study is clear evidence that uncommon genetic variants can have a significant impact on widespread diseases,” Professor Ohlsson says. “We have discovered a new mechanism for regulating bone density and fractures.”
Sahlgrenska Academy, University of Gothenburg
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29 September 2015, Darmstadt, Germany— Merck Millipore, the Life Science division of Merck, accepted a Silver Stevie® Award for its AFS® E Water Purification Systems at a banquet held on Friday, September 11 in San Francisco. The award was conferred by The American Business AwardsSM, the premier business awards program in the United States.
The AFS® E systems won the silver award in the ‘Health & Pharmaceuticals – Products & Services’ category in an event dedicated to outstanding new products and technology industries. Finalists were announced in May from over 3,300 entries submitted, and Gold, Silver and Bronze winners were judged and determined by more than 200 U.S. executives. Created in 2002 to recognize the achievements of organizations and professionals worldwide, the Stevie® Awards are organized in six separate programs, including The American Business AwardsSM.
Merck Millipore was represented at the awards dinner by Mohamed Bacchus, Regional Director of Sales West – Lab Water, and Joseph Plurad, North America Field Marketing Manager – Lab Water. ‘These AFS® E water purification systems incorporate our latest innovative technologies,’ said Joseph. ‘I’m proud to accept this award on behalf of all my colleagues worldwide who helped develop and support these new systems. By listening attentively to our clinical laboratory users, we were able to take their demands — as well as unmet needs — into account. The result is impressive, with systems offering our clinical lab customers the best advanced water purification technologies, as well as a unique user interface, serviceability, and sustainability.’
The AFS® 40E, 80E, 120E and 150E Water Purification Systems provide an economical and reliable high-performance solution for clinical analyzers with daily pure water needs up to 3000 liters. These systems integrate Merck Millipore’s state-of-the-art Elix® electrodeionization module, unique E.R.A.™ technology that decreases costs by automatically optimizing water recovery based on feed water quality, as well as 24/7 real-time monitoring and remote control.
Details about The American Business AwardsSM and the list of finalists in all categories are available at: www.stevieawards.com/aba
For more information on www.merckmillipore.com/labwater
Additional Resources
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If you would like to speak to a media relations expert, please contact: Alexandra Langlois + 33 (0)6 76 54 41 28 – alexandra.langlois@external.merckgroup.com
About Merck Millipore Merck Millipore is the Life Science subsidiary of Merck, Darmstadt, Germany. As part of the global Life Science business of Merck, Merck Millipore offers a broad range of innovative performance products, services and business relationships that enable our customers’ success in research, development and production of biotech and pharmaceutical drug therapies. Through dedicated collaboration on new scientific and engineering insights, and as one of the top three R&D investors in the life science tools industry, the Life Science business of Merck serves as a strategic partner to customers and helps advance the promise of life science. Headquartered in Billerica, Massachusetts, the global business has around 10,000 employees, operations in 66 countries and 2014 revenues of €2.7 billion. Merck Millipore operates as EMD Millipore in the U.S. and Canada. For more information, please visit www.merckmillipore.com
About Merck Merck is a leading company for innovative and top-quality high-tech products in healthcare, life science and performance materials. The company has six businesses – Merck Serono, Consumer Health, Allergopharma, Biosimilars, Merck Millipore and Performance Materials – and generated sales of € 11.3 billion in 2014. Around 39,000 Merck employees work in 66 countries to improve the quality of life for patients, to foster the success of customers and to help meet global challenges. Merck is the world’s oldest pharmaceutical and chemical company – since 1668, the company has stood for innovation, business success and responsible entrepreneurship. Holding an approximately 70% interest, the founding family remains the majority owner of the company to this day. Merck, Darmstadt, Germany holds the global rights to the Merck name and brand. The only exceptions are Canada and the United States, where the company operates as EMD Serono, EMD Millipore and EMD Performance Materials. For more information, please visit http://www.merckgroup.com/en/index.html
About the Stevie® Awards Stevie® Awards are conferred in six programs: the Asia-Pacific Stevie® Awards, the German Stevie® Awards, The American Business AwardsSM, The International Business Awards, the Stevie® Awards for Women in Business, and the Stevie® Awards for Sales & Customer Service. Stevie® Award competitions receive more than 10,000 entries each year from organizations in more than 60 nations. Honoring organizations of all types and sizes and the people behind them, the Stevies™ recognize outstanding performances in the workplace worldwide. Learn more about the Stevie® Awards at http://www.StevieAwards.com
Merck Millipore, the M mark, AFS, and Elix are registered trademarks of, and E.R.A is a trademark of Merck KGaA, Darmstadt, Germany. Any other trademarks are the property of their respective owners.
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A few years ago, Javier Benítez, director of the Human Genetics Group at the CNIO, received a call from Pablo García Pavía, from the Cardiology Unit of the Puerta de Hierro University Hospital. This cardiologist was treating two brothers with a rare form of cancer, cardiac angiosarcoma (CAS). Could the experts in genetics do something? “At that time we tried a few ideas, but unsuccessfully,”says Benítez. We have had to wait for modern genome analysis techniques to discover the brothers’ genetic problem. The finding opens a way to identify CAS families who are carriers of a mutation in the gene
responsible for the disease. Family members could then benefit from an early diagnosis and the appropriate treatment.
Researchers in Benítez’s group recently revaluated the case of the
brothers with CAS. After sequencing their exome — the part of the
genome that is translated into protein and therefore the one that most
influences the state of the organism, they found that the cause of the
illness was a mutation in a gene called POT1.
The identification of this gene led them directly to another CNIO group,
the Telomere and Telomerase Group, headed by María Blasco. POT1 is
one of the proteins that comprise the protective shield around telomeres
— the structures that protect the tips of chromosomes — and it has
recently been identified as responsible for other forms of hereditary
cancer: melanoma and familial glioma. Blasco’s group is not only one of
the leading groups in the field of telomeres, but has also participated —
together with the groups headed by Carlos López-Otín and Elías Campo —
in the first description of the mutation of this gene in human cancer
(chronic lymphocytic leukaemia).
Cardiac angiosarcoma is a rare but malignant disease. In the case of
hereditary CAS, the median survival expectancy is only four months
because the disease is diagnosed at an advanced stage. Until now, no
related gene has been identified.
CNIO researchers also observed that hereditary CAS occurs in families with
a high incidence of other types of cancer. This is similar to what is
observed in people affected by the so-called Li-Fraumeni syndrome, which
is caused by a mutation in the tumour suppressor gene — nicknamed the
genome guardian — P53. However, POT1, but not P53, was found
mutated in the families affected by CAS.
The discovery of the new mutation proved to be even more significant
from a clinical perspective, given that it identified carriers at risk of
developing cardiac angiosarcoma and possibly other tumours.
As Benítez explained, “in the past, we simply didn’t have anything that
could help in identifying these people at risk, because there were no
markers for familial CAS or for families with a syndrome similar to Li-
Fraumeni without P53 mutations. This study uncovers one of the genes
that explains the high incidence of cancer in some of them.”
“The translation of these results into the clinic is immediate,” says Blasco.
“In fact, we are already helping families that carry this mutation.”
CNIO
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A group of researchers, led by Prof. Matozaki Takashi and Associate Prof. Murata Yoji at the Kobe University Graduate School of Medicine Division of Molecular and Cellular Signalling, were the first to demonstrate the role of stomach cancer–associated protein tyrosine phosphatase (SAP)-1 in the pathogenesis and prevention of Crohn’s disease, ulcerative colitis, and other inflammatory bowel disorders. Their findings are expected to accelerate the development of targeted therapies for inflammatory gastrointestinal diseases.
Inflammatory bowel diseases, such as Crohn’s disease and ulcerative colitis, are disorders of unknown etiology that are often characterized by abdominal pain, diarrhoea, bloody stool, fever, and weight loss. These symptoms frequently interfere with activities of daily living and place patients at an elevated risk of mortality. Patients are also associated with a high risk of developing colorectal cancer. In Japan, there are an estimated 200,000 patients with Crohn’s disease and ulcerative colitis, who qualify for the special Government-led medical assistance system for intractable diseases. Currently, the administration of anti-inflammatory agents only provides palliative results, and the medical community is awaiting new definitive therapies.
Although recent studies have demonstrated that intestinal epithelial cells play a critical role in regulating bowel inflammation, the underlying mechanism remains largely unknown. Previously, Prof. Matozaki, Assistant Prof. Murata, and their colleagues found that SAP-1 localizes to the microvilli of the brush border in gastrointestinal epithelial cells. The transmembrane-type tyrosine phosphatase SAP-1 has an extracellular domain that protrudes into the intestinal lumen and a cytoplasmic domain that mediates tyrosine dephosphorylation of proteins. Here, they showed that SAP-1 ablation in a mouse model of inflammatory bowel disease resulted in a marked increase in the incidence and severity of bowel inflammation, suggesting that SAP-1 plays a protective role against colitis.
In addition, carcinoembryonic antigen-related cell adhesion molecule (CEACAM) 20, an intestinal microvillus-specific membrane protein, was identified as the target of SAP-1 tyrosine dephosphorylation. Suppression of CEACAM20 functions via dephosphorylation was suggested to contribute to preventing colitis. By shedding light on the anti-inflammatory mechanism of the intestinal epithelial cells, Prof. Matozaki and colleagues believe that their findings will drive the development of drugs that target SAP-1 and CEACAM20 to overcome intractable inflammatory bowel diseases.
Kobe University
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Unravelling the genetic sequences of cancer that has spread to the brain could offer unexpected targets for effective treatment, according to new research.
Researchers say that they found that the original, or primary, cancer in a patient’s body may have important differences at a genetic level from cancer that has spread to the patient’s brain (brain metastases). This insight could suggest new lines of treatment.
Dr Priscilla Brastianos, MD, a neuro-oncologist and Director of the Brain Metastasis Program at Massachusetts General Hospital, Boston, USA, said: “Brain metastases are a devastating complication of cancer. Approximately eight to ten percent of cancer patients will develop brain metastases, and treatment options are limited. Even where treatment is successfully controlling cancer elsewhere in the body, brain metastases often grow rapidly.”
Dr Brastianos and her colleagues studied tissue samples from 104 adults with cancer. In collaboration with Dr Scott Carter and Dr Gad Getz at the Broad Institute, Cambridge, USA, they analysed the genetics of biopsies taken from the primary tumour, brain metastases and normal tissues in each adult. For 20 patients, they also had access to metastases elsewhere in the body.
Brain metastases often manifest years after the primary tumour. Before this study was carried out, the extent to which the genetic profiles of brain metastases differ from that of the primary was unknown.
The researchers found that, in every patient, the brain metastasis and primary tumour shared some of their genetics, but there were also key differences. In 56% of patients, genetic alterations that potentially could be targeted with drugs were found in the brain metastasis but not in the primary tumour.
“We found genetic alterations in brain metastases that could affect treatment decisions in more than half of the patients in our study,” Dr Brastianos will say. “We could not detect these genetic alterations in the biopsy of the primary tumour. This means that when we rely on analysis of a primary tumour we may miss mutations in the brain metastases that we could potentially target and treat effectively with drugs.”
This study also found that if a patient had more than one brain metastasis, each was genetically similar.
To date, scientists have had limited understanding of how cancers change genetically, or evolve, as they spread from the primary tumour. The researchers used their findings to map the evolution of a cancer through a patient’s body, and draw up a so-called phylogenetic tree for each patient to demonstrate how the cancer had spread and where each metastasis had come from.
They concluded that brain metastases and the primary tumour share a common genetic ancestor. Once a cancer cell, or clone, has moved from the primary site to the brain, it continues to develop and amass genetic mutations. The genetic similarity of the brain metastases in individual patients suggests that each brain metastasis has developed from a single clone entering the brain.
The genetic changes in brain metastases are independent of any occurring at the same time in the primary tumour, and in metastases elsewhere in the body, the researchers said.
Characterisation of the genetics of a patient’s primary cancer can be used to optimise treatment decisions, so that drugs that target specific mutations in the cancer can be chosen. However, brain metastases are not routinely biopsied and analysed.
ECC 2015
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The UK10K study explored the contribution of these rare genetic variants to human disease and its risk factors.
Rare genetic variants are changes in DNA that are carried only by relatively few people in a population. The UK10K study was designed to explore the contribution of these rare genetic variants to human disease and its risk factors.
‘The project has made important new contributions towards describing the role of rare genetic variants in a broad range of disease scenarios and human traits.’ says Dr Nicole Soranzo, corresponding author from the Wellcome Trust Sanger Institute. ‘It has shown that the value of sequencing a few thousand individuals is high for highly penetrant, rare diseases, but that for complex traits and diseases much larger sample sizes will be required in future studies. The data and results produced by this project will be instrumental for these future efforts.’
The project studied nearly 10,000 individuals, both healthy and affected by disease. The conditions included very rare disorders inherited in families, and more common diseases such as autism, schizophrenia and obesity. In healthy people, 64 different biomedical risk factors such as blood pressure or cholesterol levels were studied. By characterising the DNA sequence of these individuals, the project gained insight into the contribution of rare variants to a broad range of disease scenarios, and discovered new genetic variants and genes underpinning disease risk.
‘The UK10K project has increased the resolution of genetic discoveries. It has enabled access to a much denser set of variants within the genome in the UK population, which can be used to refine our understanding of genetic effect on phenotypic traits,’ explains Richard Durbin, senior UK10K researcher at the Sanger Institute. ‘In earlier studies either very rare variants with big effects or common variants, which usually only have small effects, could be analysed. Now we have been able to explore an increased part of the spectrum of variation in between the very rare and the common ones.’
A series of papers published today in Nature and Nature Genetics in collaboration with other investigators demonstrates the value of these data for genetic discoveries.
As efforts continue to characterise the genetic underpinnings of complex diseases, the data and results of this study are expected to enable the next wave of discoveries. The UK10K sequence reference panel, described in greater detail in a companion paper published in Nature Communications, has been shown to greatly increase the ability to characterise rare variants in large population samples available to the worldwide research community. This resource will enable researchers to ‘fill in’ missing data from lower resolution genotype studies, allowing them to explore full genotypes more quickly and cheaply.
Sanger Institute
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Ortho Clinical Diagnostics is emerging stronger than ever since becoming an independent company in 2014, when it was purchased by The Carlyle Group, and has made tremendous progress in developing a range of new assays. Company researchers presented data from five assays currently under development at this year’s American Association for Clinical Chemistry (AACC) meeting.
“We are investing in our business to better serve the modern clinical lab with state-of-the-art solutions,” said Ted Farrell, Vice President Business Field Assays. “We continue to enhance the quality of our products and expand our new product development pipeline for our Clinical Laboratory business.”
The assays presented at AACC address a range of important areas for clinical lab testing including HIV detection and cardiac event monitoring. Following is a quick overview:
Ortho Clinical Diagnostics is developing a fourth generation assay to detect both HIV 1 antigen genotypes and HIV 1 & 2 antibody subgroups for use on its random access VITROS® systems. The assay demonstrated seroconversion sensitivity consistent with a commercially available fourth generation assay and was more sensitive than a third generation assay.
A rapid, fully automated, high sensitivity assay is under development for the measurement of cardiac troponin I (cTnl) and is designed to be more analytically sensitive than contemporary cTnl and cTnT assays.
Preliminary performance data showed that OCD’s prototype VITROS® Insulin Assay has excellent precision, cross-reactivity with pro-insulin and c-peptide as well as good correlation with two methods that are already commercially available.
The current VITROS® Cl- Slide is FDA cleared for use with serum and plasma, but not in urine.Testing of urine samples using the current calibration and the proper testing protocol for plasma and serum resulted in impressive performance, reproducibility and linearity.
Ortho Clinical Diagnostics is focused on bringing targeted solutions like these to its clinical laboratory customers aimed at addressing unmet clinical needs and driving improvements to quality care. It continues to press the boundaries of what’s possible in its quest for new and better assays.
www.orthoclinical.com
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Beckman Coulter Diagnostics and COPAN Group have entered into an amendment to their distribution agreement that expands their relationship into new products and geographic territories. Additional products include COPAN’s WASPLab automated, front-end robotic specimen processing, full lab automation and digital microbiology system. The amendment grants Beckman Coulter distribution rights in 21 global markets, including a number of territories in North America, Asia (including, among other territories, Japan and China), Europe, South America and many emerging markets. “We’re very excited to expand our relationship with COPAN to offer clinical microbiology laboratories an extended portfolio of products to help provide physicians with the critical information they need regarding bacteria resistance,” said Arnd Kaldowski, president, Beckman Coulter Diagnostics. “COPAN’s products complement our newly acquired MicroScan brand of microbiology solutions and offer hospitals and private laboratories a complete solution which streamlines workflow—demonstrating Beckman Coulter’s commitment to growth and investment in this new area of our business.” Stefania Triva, COPAN Group’s CEO said, “This is a new step in the collaboration between the two companies and we look forward to continue working together to expand our reach.” Norman Sharples, Executive VP and co-founder of COPAN Diagnostics, Inc. added, “COPAN has always been committed to provide open platform solutions to our customers and this partnership is further evidence and reinforcement of our ability to integrate and interface with important platforms in microbiology.” In addition to WASPLab, the amendment allows Beckman Coulter to distribute COPAN’s CTracer, SYNAPSEPro MINI and MALDI-Trace products.
www.beckmancoulter.com www.copaninnovation.com
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DIAsource ImmunoAssays has received China FDA clearance for its 25OH Vitamin D ELISA assay based on proprietary (Patented) monoclonal antibodies. The test is successfully launched in the Chinese market in collaboration with a local Chinese distributor and its sub-distributors. The assay which has the CE mark and is FDA cleared, is characterized by a very simple protocol with an extremely efficient pretreatment solution directly in the ELISA well. Its extreme user-friendliness makes it a popular assay among manual ELISA users as well as in laboratories that need high throughput using open ELISA instruments. The company provides validated protocols for the most common ELISA automates in the market. This assay is one of the various assays for determination of Vitamin D (25OH Vitamin D, 1,25 (OH)2 Vitamin D and free 25OH Vitamin D) that DIAsource has available (IVD and RUO versions) in its product portfolio either in an ELISA and/or RIA format.
www.vitamin-d-diagnostics.com
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Binding Site has announced that its Immunologicals Group has just launched a brand-new website, www.thespecimenbank.com, which has been expressly created and designed to serve as a resource for those in-vitro diagnostic (IVD) manufacturing companies and clinical/life-science research facilities in search of a high-quality source of clinical specimens. Clinical specimens from human patients are essential and frequently overlooked components within the IVD industry. Required for ensuring the validity and integrity of products prior to, and after market introduction, they are also necessary for a host of other critical clinical studies, including assay performance testing, validation studies, trouble-shooting, and for the data and documentation required for regulatory approval and clearance. Historically, both the availability and sourcing of high quality clinical specimens has been problematic, until now. Through utilization of a network of various collection sites, Binding Site is able to provide those interested organizations with human clinical specimens to meet their specific testing criteria. We can provide human patient specimens in single or multiple matrices (serum, plasma, urine, CSF, etc.), with or without patient information, and/or consent forms. All can be characterized by individual analyte, age, and gender, along with the quantitative and/or qualitative test result(s). www.thespecimenbank.com features a broad offering of clinical specimens available, along with other vital details on additional services available within this product line offering, including quality assurance, regulatory information, and documentation.
www.thebindingsite.com
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Researchers identify a genetic cause of osteoporosis
, /in E-News /by 3wmediaAn international team that includes researchers at Sahlgrenska Academy has found a new genetic cause of osteoporosis. The findings set the stage for eventually curing the disease.
Osteoporosis is a common condition that leads to fractures with half of all women experiencing a fracture during their lifetime.
The discovery of a genetic variant has permitted researchers to link a particular gene to bone density and fractures. Follow-up studies have described the mechanisms by which the protein coded by the gene affects bone density.
Sahlgrenska Academy Professor Claes Ohlsson, who participated in the study, says, “Given that the EN1 gene has never been associated with osteoporosis before, we have a brand new pathway for developing drugs that can inhibit the condition.”
Directed by Canadian scientists, the international study initially examined highly detailed genetic data from 10,000 individuals and subsequently replicated the EN1 discovery in 500,000 others. The inclusion of so many subjects allowed the researchers to establish correlations between rare genetic changes and pathological conditions.
“The study is clear evidence that uncommon genetic variants can have a significant impact on widespread diseases,” Professor Ohlsson says. “We have discovered a new mechanism for regulating bone density and fractures.” Sahlgrenska Academy, University of Gothenburg
Merck Millipore Accepts Silver Stevie® Award for AFS® E Water Purification Systems at the 2015 American Business AwardsSM
, /in E-News /by 3wmedia29 September 2015, Darmstadt, Germany — Merck Millipore, the Life Science division of Merck, accepted a Silver Stevie® Award for its AFS® E Water Purification Systems at a banquet held on Friday, September 11 in San Francisco. The award was conferred by The American Business AwardsSM, the premier business awards program in the United States.
The AFS® E systems won the silver award in the ‘Health & Pharmaceuticals – Products & Services’ category in an event dedicated to outstanding new products and technology industries. Finalists were announced in May from over 3,300 entries submitted, and Gold, Silver and Bronze winners were judged and determined by more than 200 U.S. executives. Created in 2002 to recognize the achievements of organizations and professionals worldwide, the Stevie® Awards are organized in six separate programs, including The American Business AwardsSM.
Merck Millipore was represented at the awards dinner by Mohamed Bacchus, Regional Director of Sales West – Lab Water, and Joseph Plurad, North America Field Marketing Manager – Lab Water. ‘These AFS® E water purification systems incorporate our latest innovative technologies,’ said Joseph. ‘I’m proud to accept this award on behalf of all my colleagues worldwide who helped develop and support these new systems. By listening attentively to our clinical laboratory users, we were able to take their demands — as well as unmet needs — into account. The result is impressive, with systems offering our clinical lab customers the best advanced water purification technologies, as well as a unique user interface, serviceability, and sustainability.’
The AFS® 40E, 80E, 120E and 150E Water Purification Systems provide an economical and reliable high-performance solution for clinical analyzers with daily pure water needs up to 3000 liters. These systems integrate Merck Millipore’s state-of-the-art Elix® electrodeionization module, unique E.R.A.™ technology that decreases costs by automatically optimizing water recovery based on feed water quality, as well as 24/7 real-time monitoring and remote control.
Details about The American Business AwardsSM and the list of finalists in all categories are available at: www.stevieawards.com/aba
For more information on www.merckmillipore.com/labwater
Additional Resources
> Download high resolution photo
If you would like to speak to a media relations expert, please contact: Alexandra Langlois + 33 (0)6 76 54 41 28 – alexandra.langlois@external.merckgroup.com
About Merck Millipore
Merck Millipore is the Life Science subsidiary of Merck, Darmstadt, Germany. As part of the global Life Science business of Merck, Merck Millipore offers a broad range of innovative performance products, services and business relationships that enable our customers’ success in research, development and production of biotech and pharmaceutical drug therapies. Through dedicated collaboration on new scientific and engineering insights, and as one of the top three R&D investors in the life science tools industry, the Life Science business of Merck serves as a strategic partner to customers and helps advance the promise of life science. Headquartered in Billerica, Massachusetts, the global business has around 10,000 employees, operations in 66 countries and 2014 revenues of €2.7 billion. Merck Millipore operates as EMD Millipore in the U.S. and Canada.
For more information, please visit www.merckmillipore.com
About Merck
Merck is a leading company for innovative and top-quality high-tech products in healthcare, life science and performance materials. The company has six businesses – Merck Serono, Consumer Health, Allergopharma, Biosimilars, Merck Millipore and Performance Materials – and generated sales of € 11.3 billion in 2014. Around 39,000 Merck employees work in 66 countries to improve the quality of life for patients, to foster the success of customers and to help meet global challenges. Merck is the world’s oldest pharmaceutical and chemical company – since 1668, the company has stood for innovation, business success and responsible entrepreneurship. Holding an approximately 70% interest, the founding family remains the majority owner of the company to this day. Merck, Darmstadt, Germany holds the global rights to the Merck name and brand. The only exceptions are Canada and the United States, where the company operates as EMD Serono, EMD Millipore and EMD Performance Materials.
For more information, please visit http://www.merckgroup.com/en/index.html
About the Stevie® Awards
Stevie® Awards are conferred in six programs: the Asia-Pacific Stevie® Awards, the German Stevie® Awards, The American Business AwardsSM, The International Business Awards, the Stevie® Awards for Women in Business, and the Stevie® Awards for Sales & Customer Service. Stevie® Award competitions receive more than 10,000 entries each year from organizations in more than 60 nations. Honoring organizations of all types and sizes and the people behind them, the Stevies™ recognize outstanding performances in the workplace worldwide. Learn more about the Stevie® Awards at http://www.StevieAwards.com
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Mutated gene in families with multiple tumours, including angiosarcoma
, /in E-News /by 3wmediaA few years ago, Javier Benítez, director of the Human Genetics Group at the CNIO, received a call from Pablo García Pavía, from the Cardiology Unit of the Puerta de Hierro University Hospital. This cardiologist was treating two brothers with a rare form of cancer, cardiac angiosarcoma (CAS). Could the experts in genetics do something? “At that time we tried a few ideas, but unsuccessfully,”says Benítez. We have had to wait for modern genome analysis techniques to discover the brothers’ genetic problem. The finding opens a way to identify CAS families who are carriers of a mutation in the gene
responsible for the disease. Family members could then benefit from an early diagnosis and the appropriate treatment.
Researchers in Benítez’s group recently revaluated the case of the
brothers with CAS. After sequencing their exome — the part of the
genome that is translated into protein and therefore the one that most
influences the state of the organism, they found that the cause of the
illness was a mutation in a gene called POT1.
The identification of this gene led them directly to another CNIO group,
the Telomere and Telomerase Group, headed by María Blasco. POT1 is
one of the proteins that comprise the protective shield around telomeres
— the structures that protect the tips of chromosomes — and it has
recently been identified as responsible for other forms of hereditary
cancer: melanoma and familial glioma. Blasco’s group is not only one of
the leading groups in the field of telomeres, but has also participated —
together with the groups headed by Carlos López-Otín and Elías Campo —
in the first description of the mutation of this gene in human cancer
(chronic lymphocytic leukaemia).
Cardiac angiosarcoma is a rare but malignant disease. In the case of
hereditary CAS, the median survival expectancy is only four months
because the disease is diagnosed at an advanced stage. Until now, no
related gene has been identified.
CNIO researchers also observed that hereditary CAS occurs in families with
a high incidence of other types of cancer. This is similar to what is
observed in people affected by the so-called Li-Fraumeni syndrome, which
is caused by a mutation in the tumour suppressor gene — nicknamed the
genome guardian — P53. However, POT1, but not P53, was found
mutated in the families affected by CAS.
The discovery of the new mutation proved to be even more significant
from a clinical perspective, given that it identified carriers at risk of
developing cardiac angiosarcoma and possibly other tumours.
As Benítez explained, “in the past, we simply didn’t have anything that
could help in identifying these people at risk, because there were no
markers for familial CAS or for families with a syndrome similar to Li-
Fraumeni without P53 mutations. This study uncovers one of the genes
that explains the high incidence of cancer in some of them.”
“The translation of these results into the clinic is immediate,” says Blasco.
“In fact, we are already helping families that carry this mutation.” CNIO
Protein protects against bowel inflammation
, /in E-News /by 3wmediaA group of researchers, led by Prof. Matozaki Takashi and Associate Prof. Murata Yoji at the Kobe University Graduate School of Medicine Division of Molecular and Cellular Signalling, were the first to demonstrate the role of stomach cancer–associated protein tyrosine phosphatase (SAP)-1 in the pathogenesis and prevention of Crohn’s disease, ulcerative colitis, and other inflammatory bowel disorders. Their findings are expected to accelerate the development of targeted therapies for inflammatory gastrointestinal diseases.
Inflammatory bowel diseases, such as Crohn’s disease and ulcerative colitis, are disorders of unknown etiology that are often characterized by abdominal pain, diarrhoea, bloody stool, fever, and weight loss. These symptoms frequently interfere with activities of daily living and place patients at an elevated risk of mortality. Patients are also associated with a high risk of developing colorectal cancer. In Japan, there are an estimated 200,000 patients with Crohn’s disease and ulcerative colitis, who qualify for the special Government-led medical assistance system for intractable diseases. Currently, the administration of anti-inflammatory agents only provides palliative results, and the medical community is awaiting new definitive therapies.
Although recent studies have demonstrated that intestinal epithelial cells play a critical role in regulating bowel inflammation, the underlying mechanism remains largely unknown. Previously, Prof. Matozaki, Assistant Prof. Murata, and their colleagues found that SAP-1 localizes to the microvilli of the brush border in gastrointestinal epithelial cells. The transmembrane-type tyrosine phosphatase SAP-1 has an extracellular domain that protrudes into the intestinal lumen and a cytoplasmic domain that mediates tyrosine dephosphorylation of proteins. Here, they showed that SAP-1 ablation in a mouse model of inflammatory bowel disease resulted in a marked increase in the incidence and severity of bowel inflammation, suggesting that SAP-1 plays a protective role against colitis.
In addition, carcinoembryonic antigen-related cell adhesion molecule (CEACAM) 20, an intestinal microvillus-specific membrane protein, was identified as the target of SAP-1 tyrosine dephosphorylation. Suppression of CEACAM20 functions via dephosphorylation was suggested to contribute to preventing colitis. By shedding light on the anti-inflammatory mechanism of the intestinal epithelial cells, Prof. Matozaki and colleagues believe that their findings will drive the development of drugs that target SAP-1 and CEACAM20 to overcome intractable inflammatory bowel diseases. Kobe University
Genetic screening of brain metastases could reveal new targets for treatment
, /in E-News /by 3wmediaUnravelling the genetic sequences of cancer that has spread to the brain could offer unexpected targets for effective treatment, according to new research.
Researchers say that they found that the original, or primary, cancer in a patient’s body may have important differences at a genetic level from cancer that has spread to the patient’s brain (brain metastases). This insight could suggest new lines of treatment.
Dr Priscilla Brastianos, MD, a neuro-oncologist and Director of the Brain Metastasis Program at Massachusetts General Hospital, Boston, USA, said: “Brain metastases are a devastating complication of cancer. Approximately eight to ten percent of cancer patients will develop brain metastases, and treatment options are limited. Even where treatment is successfully controlling cancer elsewhere in the body, brain metastases often grow rapidly.”
Dr Brastianos and her colleagues studied tissue samples from 104 adults with cancer. In collaboration with Dr Scott Carter and Dr Gad Getz at the Broad Institute, Cambridge, USA, they analysed the genetics of biopsies taken from the primary tumour, brain metastases and normal tissues in each adult. For 20 patients, they also had access to metastases elsewhere in the body.
Brain metastases often manifest years after the primary tumour. Before this study was carried out, the extent to which the genetic profiles of brain metastases differ from that of the primary was unknown.
The researchers found that, in every patient, the brain metastasis and primary tumour shared some of their genetics, but there were also key differences. In 56% of patients, genetic alterations that potentially could be targeted with drugs were found in the brain metastasis but not in the primary tumour.
“We found genetic alterations in brain metastases that could affect treatment decisions in more than half of the patients in our study,” Dr Brastianos will say. “We could not detect these genetic alterations in the biopsy of the primary tumour. This means that when we rely on analysis of a primary tumour we may miss mutations in the brain metastases that we could potentially target and treat effectively with drugs.”
This study also found that if a patient had more than one brain metastasis, each was genetically similar.
To date, scientists have had limited understanding of how cancers change genetically, or evolve, as they spread from the primary tumour. The researchers used their findings to map the evolution of a cancer through a patient’s body, and draw up a so-called phylogenetic tree for each patient to demonstrate how the cancer had spread and where each metastasis had come from.
They concluded that brain metastases and the primary tumour share a common genetic ancestor. Once a cancer cell, or clone, has moved from the primary site to the brain, it continues to develop and amass genetic mutations. The genetic similarity of the brain metastases in individual patients suggests that each brain metastasis has developed from a single clone entering the brain.
The genetic changes in brain metastases are independent of any occurring at the same time in the primary tumour, and in metastases elsewhere in the body, the researchers said.
Characterisation of the genetics of a patient’s primary cancer can be used to optimise treatment decisions, so that drugs that target specific mutations in the cancer can be chosen. However, brain metastases are not routinely biopsied and analysed. ECC 2015
10,000 UK genomes project explores the contribution of rare variants to human disease and its risk factors
, /in E-News /by 3wmediaThe UK10K study explored the contribution of these rare genetic variants to human disease and its risk factors.
Rare genetic variants are changes in DNA that are carried only by relatively few people in a population. The UK10K study was designed to explore the contribution of these rare genetic variants to human disease and its risk factors.
‘The project has made important new contributions towards describing the role of rare genetic variants in a broad range of disease scenarios and human traits.’ says Dr Nicole Soranzo, corresponding author from the Wellcome Trust Sanger Institute. ‘It has shown that the value of sequencing a few thousand individuals is high for highly penetrant, rare diseases, but that for complex traits and diseases much larger sample sizes will be required in future studies. The data and results produced by this project will be instrumental for these future efforts.’
The project studied nearly 10,000 individuals, both healthy and affected by disease. The conditions included very rare disorders inherited in families, and more common diseases such as autism, schizophrenia and obesity. In healthy people, 64 different biomedical risk factors such as blood pressure or cholesterol levels were studied. By characterising the DNA sequence of these individuals, the project gained insight into the contribution of rare variants to a broad range of disease scenarios, and discovered new genetic variants and genes underpinning disease risk.
‘The UK10K project has increased the resolution of genetic discoveries. It has enabled access to a much denser set of variants within the genome in the UK population, which can be used to refine our understanding of genetic effect on phenotypic traits,’ explains Richard Durbin, senior UK10K researcher at the Sanger Institute. ‘In earlier studies either very rare variants with big effects or common variants, which usually only have small effects, could be analysed. Now we have been able to explore an increased part of the spectrum of variation in between the very rare and the common ones.’
A series of papers published today in Nature and Nature Genetics in collaboration with other investigators demonstrates the value of these data for genetic discoveries.
As efforts continue to characterise the genetic underpinnings of complex diseases, the data and results of this study are expected to enable the next wave of discoveries. The UK10K sequence reference panel, described in greater detail in a companion paper published in Nature Communications, has been shown to greatly increase the ability to characterise rare variants in large population samples available to the worldwide research community. This resource will enable researchers to ‘fill in’ missing data from lower resolution genotype studies, allowing them to explore full genotypes more quickly and cheaply. Sanger Institute
Ortho Clinical Diagnostics researchers present data on pipeline of assays
, /in E-News /by 3wmediaOrtho Clinical Diagnostics is emerging stronger than ever since becoming an independent company in 2014, when it was purchased by The Carlyle Group, and has made tremendous progress in developing a range of new assays. Company researchers presented data from five assays currently under development at this year’s American Association for Clinical Chemistry (AACC) meeting.
“We are investing in our business to better serve the modern clinical lab with state-of-the-art solutions,” said Ted Farrell, Vice President Business Field Assays. “We continue to enhance the quality of our products and expand our new product development pipeline for our Clinical Laboratory business.”
The assays presented at AACC address a range of important areas for clinical lab testing including HIV detection and cardiac event monitoring. Following is a quick overview:
Ortho Clinical Diagnostics is focused on bringing targeted solutions like these to its clinical laboratory customers aimed at addressing unmet clinical needs and driving improvements to quality care. It continues to press the boundaries of what’s possible in its quest for new and better assays.
www.orthoclinical.comBeckman Coulter and COPAN extend distribution agreement for automated sample processing systems and digital microbiology
, /in E-News /by 3wmediaBeckman Coulter Diagnostics and COPAN Group have entered into an amendment to their distribution agreement that expands their relationship into new products and geographic territories. Additional products include COPAN’s WASPLab automated, front-end robotic specimen processing, full lab automation and digital microbiology system. The amendment grants Beckman Coulter distribution rights in 21 global markets, including a number of territories in North America, Asia (including, among other territories, Japan and China), Europe, South America and many emerging markets.
www.beckmancoulter.com www.copaninnovation.com“We’re very excited to expand our relationship with COPAN to offer clinical microbiology laboratories an extended portfolio of products to help provide physicians with the critical information they need regarding bacteria resistance,” said Arnd Kaldowski, president, Beckman Coulter Diagnostics. “COPAN’s products complement our newly acquired MicroScan brand of microbiology solutions and offer hospitals and private laboratories a complete solution which streamlines workflow—demonstrating Beckman Coulter’s commitment to growth and investment in this new area of our business.”
Stefania Triva, COPAN Group’s CEO said, “This is a new step in the collaboration between the two companies and we look forward to continue working together to expand our reach.”
Norman Sharples, Executive VP and co-founder of COPAN Diagnostics, Inc. added, “COPAN has always been committed to provide open platform solutions to our customers and this partnership is further evidence and reinforcement of our ability to integrate and interface with important platforms in microbiology.”
In addition to WASPLab, the amendment allows Beckman Coulter to distribute COPAN’s CTracer, SYNAPSEPro MINI and MALDI-Trace products.
DIAsource 25OH Vitamin D ELISA CFDA-cleared and launched in the Chinese market
, /in E-News /by 3wmediaDIAsource ImmunoAssays has received China FDA clearance for its 25OH Vitamin D ELISA assay based on proprietary (Patented) monoclonal antibodies. The test is successfully launched in the Chinese market in collaboration with a local Chinese distributor and its sub-distributors. The assay which has the CE mark and is FDA cleared, is characterized by a very simple protocol with an extremely efficient pretreatment solution directly in the ELISA well. Its extreme user-friendliness makes it a popular assay among manual ELISA users as well as in laboratories that need high throughput using open ELISA instruments. The company provides validated protocols for the most common ELISA automates in the market. This assay is one of the various assays for determination of Vitamin D (25OH Vitamin D, 1,25 (OH)2 Vitamin D and free 25OH Vitamin D) that DIAsource has available (IVD and RUO versions) in its product portfolio either in an ELISA and/or RIA format.
www.vitamin-d-diagnostics.comBinding Site launches dedicated website for clinical specimens to support IVD manufacturers & researchers
, /in E-News /by 3wmediaBinding Site has announced that its Immunologicals Group has just launched a brand-new website, www.thespecimenbank.com, which has been expressly created and designed to serve as a resource for those in-vitro diagnostic (IVD) manufacturing companies and clinical/life-science research facilities in search of a high-quality source of clinical specimens. Clinical specimens from human patients are essential and frequently overlooked components within the IVD industry. Required for ensuring the validity and integrity of products prior to, and after market introduction, they are also necessary for a host of other critical clinical studies, including assay performance testing, validation studies, trouble-shooting, and for the data and documentation required for regulatory approval and clearance. Historically, both the availability and sourcing of high quality clinical specimens has been problematic, until now. Through utilization of a network of various collection sites, Binding Site is able to provide those interested organizations with human clinical specimens to meet their specific testing criteria. We can provide human patient specimens in single or multiple matrices (serum, plasma, urine, CSF, etc.), with or without patient information, and/or consent forms. All can be characterized by individual analyte, age, and gender, along with the quantitative and/or qualitative test result(s). www.thespecimenbank.com features a broad offering of clinical specimens available, along with other vital details on additional services available within this product line offering, including quality assurance, regulatory information, and documentation.
www.thebindingsite.com