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bioMГ©rieux To Develop New Highly-Specific, Non-Invasive Test For Prostate Cancer, Reducing Unnecessary Biopsies

Prostate cancer is the most prevalent cancer in the United States and the 4th most common worldwide. The combination of a test for a new prostate cancer biomarker, Annexin 3, with the standard screening methods could potentially reduce the number of biopsies conducted by up to 75%, when compared with current screening methods alone. A world leader in the field of in vitro diagnostics, bioMГ©rieux has signed a license and development agreement with the German biotechnology company, ProteoSys, for Annexin 3, which will be used to develop a urine-based, confirmatory diagnostic test for prostate cancer. After a research phase, the new test should be developed on the VIDAS® platform, one of the most widely installed automated immunoassay instruments in the world.

“It was an obvious choice to partner with bioMГ©rieux because of its strategic focus on oncology, the market leadership of its VIDAS platform and its extensive commercial network,” stated AndrГ© Schrattenholz, Chief Scientific Officer of ProteoSys.

“We are very pleased to work with ProteoSys to bring such an innovative biomarker to urologists around the world,” declared StГ©phane Bancel, Chief Executive Officer of bioMГ©rieux. “This agreement is yet another building block in our high medical value test strategy.”

Annexin 3, also known as ANXA 3, was discovered by ProteoSys, a German biotechnology company based in Mainz, which specializes in the fields of cell biology and proteomics. Studies have shown that ANXA 3 quantification in urine is a novel, non-invasive test with high specificity for prostate cancer.1 Today, when the levels of PSA (Prostate Specific Antigen) are in the uninformative “grey zone”, a biopsy is used to provide definitive diagnosis. The ANXA 3 test would be used to provide better identification of patients with a high probability of prostate cancer, thereby reducing the number of unnecessary biopsies.

While complications are relatively rare, biopsies cause patient anxiety and discomfort as well as extra cost to the healthcare system. In the United States, only an estimated 15% of patients who undergo a biopsy actually are diagnosed with prostate cancer, while each biopsy costs over $1,000.

The first phase of research is beginning at bioMГ©rieux, which will be followed by the development of a diagnostic test for the VIDAS platform. While the confirmatory diagnostic application on VIDAS will be the initial focus, bioMГ©rieux is also considering the development of treatment decision and prognostic applications for ANXA 3, as described in a leading publication2. The financial details of the deal are not disclosed.

The ANXA 3 test will be complementary to the tPSA and FPSA tests available on VIDAS. bioMГ©rieux is developing a substantial panel of high medical value assays for the VIDAS system, which already include VIDAS B•R•A•H•M•S PCT for sepsis, VIDAS Clostridium difficile A & B, for healthcare-associated infections, and VIDAS D-Dimer Exclusion™, VIDAS Troponin I, VIDAS CK-MB and VIDAS NT-proBNP for cardiovascular emergencies.

About bioMГ©rieux

Advancing Diagnostics to Improve Public Health

A world leader in the field of in vitro diagnostics for 45 years, bioMГ©rieux is present in more than 150 countries through 38 subsidiaries and a large network of distributors. In 2007, revenues reached €1.063 billion with 84% of sales outside of France.

bioMГ©rieux provides diagnostic solutions (reagents, instruments, software) which determine the source of disease and contamination to improve patient health and ensure consumer safety. Its products are used for diagnosing infectious diseases and providing high medical value results for cardiovascular emergencies and cancer screening and monitoring. They are also used for detecting microorganisms in agri-food, pharmaceutical and cosmetic products. bioMГ©rieux is listed on the NYSE Euronext Paris market (Code: BIM – Code ISIN: FR0010096479). Other information can be found at biomerieux.

About ProteoSys

ProteoSys AG in Mainz (proteosys) is a research venture with a focus on systems biology, employing proprietary technology platforms for integrating quantitative proteomic and cellular information. The key technology Proteotope delivers precise and statistically significant information about protein biomarkers as surrogates for modes of action in therapeutic approaches, diagnostics and in the analysis of toxicity. ProteoSys has successful projects on prostate and breast cancer, neurodegenerative diseases, and test systems for embryo toxicity. In the more than 8 years of its existence, ProteoSys has built up a portfolio of intellectual property, which led to license agreements with partners in diagnostic and pharmaceutical industries. Next to its own development projects, ProteoSys also works in cooperation with the life science industry and in a variety of national and international research projects funded by the European Union (FP6 & FP7) and the German ministry of research and technology (overview of projects and peer-reviewed publications at proteosys).


1. Annexin A3 in urine – a highly specific non invasive marker in prostate cancer early detection. Schostak et al., J. Urol. In Press

2. Expression and Prognostic Relevance of Annexin A3 in Prostate Cancer. Köllermann J, Schlomm T, Bang H, Schwall GP, von Eichel-Streiber C, Simon R, Schostak M, Huland H, Berg W, Sauter G, Klocker H, Schrattenholz A., Eur Urol. 2008 Jan 16


Innovative Method Used To Better Analyze Multiple Genetic Factors

Could an aversion to bitter substances or an overall heightened sense of taste help protect some people from becoming addicted to nicotine? That’s what researchers at UVA have found using an innovative new method they’ve developed to analyze the interactions of multiple genetic and environmental factors. Their findings one day may be key in identifying people at risk for nicotine dependence.

In a study published in the October 10, 2008 issue of The American Journal of Human Genetics, University of Virginia Health System researchers report that two interacting genes related to bitter taste sensitivity, TAS2R16 and TAS2R38, play an important role in a person’s development of nicotine dependence and smoking behavior. Researchers found that people with higher taste sensitivity aren’t as likely to become dependant on nicotine as people with decreased taste sensitivity.

“This new knowledge is an important tool in predicting whether a person is likely to become a smoker or not,” says lead investigator Ming Li, Ph.D., professor of psychiatry and behavioral neurosciences who specializes in addiction and genetics research.

It’s long been known that a person’s ability to taste bitter substances plays a crucial role in the rejection of potentially toxic foods, but taste sensitivity varies widely among individuals and between ethnic groups. Previous studies have suggested a link between so-called taster status and nicotine dependence, but genetic evidence underlying such a link has been lacking.

“Until now, the method for analyzing gene to gene or gene to environment interactions could only handle one type of trait without correcting for other important covariants, such as age or gender, but we’ve developed a novel algorithm and corresponding computer program that can handle all types of genetic data and correct for any number of variants – gender, age, race, and so on,” explains Dr. Li, who with his team studied genetic data of more than 2,000 participants from more than 600 families of African American or European American origin.

“This new approach significantly expands our ability to study gene-gene or gene-environmental interactions. It provides a far better analytical tool for every scientist out there doing genetics work,” says Dr. Li.

“We’re laying an important foundation for addressing nicotine dependence. First we need to establish a comprehensive understanding of how all associated genes work together to affect smoking behaviors and addiction; that’s what we’re doing now. Once we have that base of knowledge, we can move on to develop effective prevention and treatment for nicotine dependence.”


Source: Sally Jones

University of Virginia Health System

Three Harvard School Of Public Health Alumni Named To New FDA Tobacco Advisory Committee

The recently formed Food and Drug Administration (FDA)’s Center for Tobacco Products has just created a new Tobacco Products Scientific Advisory Committee to review and evaluate safety, dependence, and health issues relating to tobacco products and provide appropriate advice, information, and recommendations to the Commissioner of Food and Drugs.

The Committee plans to develop reports on the impact and use of menthol in cigarettes on the public health, including vulnerable populations and ethnic minorities; the impact and use of dissolvable tobacco products; the alteration of nicotine yields in tobacco products and determination of threshold levels affecting dependence; and applications submitted by manufacturers for modified risk tobacco products.

Three of the nine voting members are Harvard School of Public Health (HSPH) alumni: Chair, Jonathan M. Samet, M.D., M.S., Mark Stuart Clanton, M.D., M.P.H., and Gregory N. Connolly, D.M.D., M.P.H. In addition, alumnus Lawrence Deyton, M.D., M.S.P.H., directs the FDA’s Center for Tobacco Products, which is charged with using the best available science to guide the development and implementation of public health strategies to reduce the burden of illness and death caused by tobacco products. The Center was created in August, 2009 in response to the Family Smoking Prevention and Tobacco Control Act; Connolly worked closely with the late Senator Ted Kennedy on the design and passage of this historic 2009 legislation, which gives the federal government the power to regulate tobacco products, including nicotine levels, additives, toxins, and modified risk products.

“The Harvard School of Public Health is in a unique role to contribute to FDA regulation of tobacco products, as we have one of the only research centers in the nation that has conducted and published extensive work on the design and addictiveness of the actual product,” says Connolly, director of the Tobacco Control Research Program and professor of the Practice of Public Health at HSPH. “This will prove essential to tobacco product regulation and saving lives from smoking.”

The first meeting of the Tobacco Products Scientific Advisory Committee will focus on published literature about the use of menthol in tobacco products, including, but not limited to, the health effects of menthol in cigarettes, marketing and consumer perceptions of menthol cigarettes, sensory qualities of menthol cigarettes, and preferential use of menthol cigarettes by persons initiating use. The HSPH Tobacco Control Research Group has previously published research on the cigarette industry’s manipulation of menthol levels in cigarettes:
see here.

Harvard School of Public Health

Only transplant center that developed comprehensive protocol for liver transplants in kids with MSUD

Children’s Hospital of Pittsburgh celebrates success of being first and only transplant center to develop a
comprehensive, multidisciplinary medical protocol for performing liver transplants in patients with Maple Syrup Urine Disease
(MSUD) –

One year ago, Children’s Hospital of Pittsburgh became the first and only transplant center in the world to develop a
comprehensive, multidisciplinary medical protocol for performing liver transplants in patients with Maple Syrup Urine Disease
(MSUD). Today, seven children who suffered from the debilitating and life-threatening disease have been transplanted and are
now free from symptoms.

No other center in the country has experienced as many successful transplants as Children’s Hospital of Pittsburgh for MSUD.
MSUD is a metabolic disorder that causes amino acids from proteins to accumulate in the body, which can have a toxic effect
and lead to brain swelling, neurological damage and death. MSUD derives its name from the sweet smell of the urine.

For the first time in these young patients’ lives, they are able to go on vacation without fear of metabolic crisis and to
eat foods, like ice cream and chicken nuggets, that normal children enjoy. All of the seven patients with MSUD who have been
transplanted at Children’s are showing excellent results.

Jakob Jasin, now 5, son of Chris and Susan Jasin of Fairfax, Va., became the first patient with MSUD to be transplanted at
Children’s on May 30, 2004. Jakob, who was 4 when transplanted and named his new liver “Tommy,” is now free from the symptoms
of the disease. Jakob was discharged from Children’s 11 days after his transplant — approximately six months after
Children’s established a comprehensive protocol that provides guidelines and safety nets for MSUD transplantation.

“Without this transplant, Jakob would have followed a strict diet for the rest of his life, and even then, he was still at
risk for going into metabolic crisis and suffering irreparable brain damage,” said George V. Mazariegos, MD, director of
Pediatric Transplantation at Children’s and associate professor at the University of Pittsburgh School of Medicine in the
departments of Surgery, Anesthesiology and Critical Care Medicine. “Suffering from MSUD may significantly impact the quality
of life for both the child and the parents. These parents live each day with the fear that a simple cold could send their
child into metabolic crisis and be fatal.”

Jakob’s amino acid levels now are normal, despite a normal protein intake, indicating that his new liver is properly
metabolizing the amino acids that used to accumulate in his body. Susan Jasin said Jakob’s transplant has changed their lives

“When I saw other parents of kids with MSUD grieving over the loss of their child, I knew then I could not bear to lose
Jakob. I could not watch him suffer brain damage because he accidentally ate one too many french fries, or because he got a
little cold,” said Susan Jasin, Jakob’s mother. “We knew transplant surgery had risks, but the alternative was a life that
could end at any moment for my son. I could not bear to live another day like that.”

People suffering from MSUD are unable to metabolize the branched-chain amino acids leucine, isoleucine and valine, which are
present in all protein foods such as meat, eggs and milk. The only treatment, up until transplant, had been a rigorous diet
to severely restrict these amino acids.

However, even strict adherence to this diet does not ensure that the patient will not go into metabolic crisis. Should a
patient with MSUD become sick with even a minor viral illness, the body will break down protein stored in muscle for energy.
The amino acids released from the child’s protein stores can be as deadly as those from the diet.

A multi-disciplinary approach to treatment and surgery was utilized to plan for every conceivable situation to ensure the
child remained healthy up until the moment of the transplant. To develop the MSUD transplant protocol, Dr. Mazariegos and a
team of experts in genetics, pharmacology, biology, chemistry and other areas at Children’s, worked in conjunction with
metabolic experts from the Clinic for Special Children.

D. Holmes Morton, MD, and Kevin A. Strauss, MD, of the Clinic for Special Children in Strasburg, Pa., collaborated with
Children’s physicians for months to develop the nation’s first protocol to perform liver transplants as a potential cure for
MSUD. Drs. Morton and Strauss have worked with many children suffering from MSUD at the clinic and brought important
techniques, treatments and invaluable experience to the group.

Children’s Hospital established computerized order sets — which tell the transplant team how to proceed during every step of
the transplant.

The hospital also set up a completely sterile room where raw amino acid powders can be prepared quickly in case there are
complications from transplantation and the patient goes into metabolic crisis.

For each MSUD patient, Children’s is prepared to make specific total parenteral nutrition (TPN) formulas based on a patient’s
amino acid levels. The formulas will be different for each patient and must be mixed precisely to ensure that the patient
receives exactly the correct amino acids to avoid metabolic crisis. TPN is a special mixture of glucose, protein, fat,
vitamins and minerals given through an intravenous tube.

“Our patients’ safety and well-being is always of the utmost importance,” Dr. Mazariegos said. “After one year, our results
show metabolic cure.”

For more information about Children’s Hospital of Pittsburgh, MSUD or to read more about Jakob’s story, please visit
Children’s Web site at

Contact: Melanie Finnigan
Children’s Hospital of Pittsburgh

Brain Health Will Be The Focus Of Staying Sharp



Brain function and health will be the focus of the Staying Sharp session on October 4 at the Embassy Suites Hotel Resort and Conference Center in Concord, NC. Part of a highly recognized series, the program will emphasize successful aging, including how to deal with the booming aging industry; factors that predict future cognitive function; and the importance of clinical trials and how to participate in them.


The program is sponsored by The Dana Alliance for Brain Initiatives, in partnership with NRTA: AARP’s Educator Community and the MetLife Foundation. Featured speakers will be:
Annette Norsman, PhD, session moderator and Director of Lifelong Learning, AARP

P. Murali Doraiswamy, MD, Division Head, Department of Psychiatry & Behavioral Sciences, Duke University

Christopher Edwards, PhD, Medical Director, Biofeedback Laboratory & Pediatric Neuropsychology Service, Duke University

Kelly S. Giovanello, PhD, Assistant Professor, Department of Psychology & Biomedical Research Imaging Center, The University of North Carolina at Chapel Hill


Saturday, October 4, 2008
10:00AM – 12:00PM


Embassy Suites Hotel Resort and Conference Center
Concord Convention Hall F
5400 John Q. Hammons Drive NW
Concord, NC

The Dana Alliance for Brain Initiatives is a nonprofit organization of more than 265 leading neuroscientists, including ten Nobel laureates, committed to advancing public awareness about the progress and benefits of brain research. NRTA: AARP’s Educator Community is America’s foremost network of 50+ adults and organizations with a passion and affinity for education and learning. MetLife Foundation was established in 1976 by MetLife for the purpose of supporting educational, health and civic and cultural organizations

Staying Sharp is a series of public forums and educational booklets for older Americans. Since its inception in 1994, the series has been attended by more than 28,500 people in 28 cities across the United States. For more information, please visit: dana/danaalliances/programs/stayingsharp/


Source: Ann Whitman

DANA Foundation

Reaction To The Judgement In The Skanda Vale Court Case, UK

The British Veterinary Association welcomes the judgement made in relation to the Skanda Vale Community bullock, Shambo.

While we appreciate the religious sensitivities surrounding this case and have absolutely no wish to be in any way inflammatory, Shambo has tested positive to bovine tuberculosis, a devastating disease with serious animal and public health implications. According to standard procedures used world-wide, including in Hindu countries, the animal should be humanely destroyed and we are relieved that the courts agree.

The implications of any other judgement for the UK, and indeed much of the world’s, disease control would have been immense and undermined the vital importance of ensuring that public and animal health concerns remain at the heart of responsible disease control policies.

British Veterinary Association

Many Companies Sent Warning Letters About Marketing Alternative HRT Still Selling Products, FTC Official Says

Many of the Web sites targeted by the Federal Trade Commission in 2005 for illegally claiming their alternative hormone replacement therapies were safer than prescription HRT still are selling the products, Eileen Harrington, deputy director of FTC’s Bureau of Consumer Protection, said at a Senate Special Committee on Aging hearing on Thursday, CQ HealthBeat reports (Reichard, CQ HealthBeat, 4/19). FDA in November 2005 sent warning letters to 16 companies that market alternatives to approved HRT. FTC that same month also sent warning letters to 34 Web site operators marketing similar therapies, saying the sites make claims that “may be false or unsubstantiated and therefore may violate the law.” The Web sites were identified during an FTC search of sites asserting that alternative HRT products — including progesterone creams, sprays or dietary supplements — could cure or prevent diseases. Some of the companies that received letters claim their products prevent cancer, osteoporosis-related bone deterioration or arthritis. Such claims would cause the products to fall under the auspices of FDA’s Food, Drugs and Cosmetic Act. The companies were given 15 days to respond to FDA after receiving the letters (Kaiser Daily Women’s Health Policy Report, 11/14/05).

According to an unnamed FTC official, 19 of the 34 companies that received letters from the FTC are still selling the alternative HRT products, the AP/USA Today reports. Harrington said that many of the Web sites have modified or removed the unsupported claims that the treatments could cure or prevent diseases. Harrington added that the agency is following up the companies that have not made changes. Sen. Gordon Smith (R-Ore.), the committee’s ranking Republican, said to reporters that FDA and FTC need to “step … up” enforcement on the issue. Harrington said, “We could have moved faster here, and we should have” (Bridges, AP/USA Today, 4/19). The customized HRT alternatives are sold without warnings about the risks associated with the drugs, witnesses at the hearing said. According to CQ HealthBeat, Smith said that he plans to introduce legislation to strengthen regulation and that he hopes publicity about the issue will encourage FTC and FDA to better monitor sales of HRT alternatives. In addition, Smith at the hearing said he has requested a study by the Congressional Research Service to determine how well each state is regulating pharmacy compounding. Harrington said FTC would take further action against the companies but did not say when, CQ HealthBeat reports (CQ HealthBeat, 4/19).

“Reprinted with permission from kaisernetwork. You can view the entire Kaiser Daily Health Policy Report, search the archives, or sign up for email delivery at kaisernetwork/dailyreports/healthpolicy. The Kaiser Daily Health Policy Report is published for kaisernetwork, a free service of The Henry J. Kaiser Family Foundation . © 2005 Advisory Board Company and Kaiser Family Foundation. All rights reserved.

Growing Old Together: Yeast, Worms, And People May Age By Similar Mechanisms

A study published online in Genome Research provides new insight into the evolutionary conservation of the genes and pathways associated with aging. This report describes the identification of conserved aging-related genes in simple model organisms that may lead to the characterization of similar genes playing a role in human aging and age-associated diseases.

While nearly all organisms experience aging, the underlying mechanisms have eluded geneticists and evolutionary biologists. Many different theories have been suggested, yet experimental evidence strongly suggests that aging is modulated, at least in part, by genetic factors. Previous studies have implicated a number of conserved genes in model organisms as regulators of aging, such as the Sirtuins and insulin/IGF1 receptors. However, no investigations to date have quantified the degree to which aging-related genes are conserved across the genome among distantly related species.

In the study published today, a group of researchers led by Drs. Matt Kaeberlein and Brian Kennedy of the University of Washington conducted a genome-wide analysis of the yeast Saccharomyces cerevisiae and the nematode worm Caenorhabditis elegans, to identify genes that may regulate aging in humans. “Nematodes and humans are more similar to each other on an evolutionary scale than nematodes and yeast,” explains Dr. Erica Smith, primary author of the study. “We reasoned that if a particular gene modulates aging in both yeast and nematodes, there is a good chance that gene plays a similar role in people.”

The researchers compiled a set of 276 C. elegans genes that were known to modulate aging, and scanned the yeast genome for genes with highly similar sequences. The highly similar yeast genes were then individually analyzed for a potential role in longevity by measuring the life span of yeast cells lacking each gene. “Our study identified 25 genes that regulate aging in both yeast and nematodes, 22 of which were not previously known to be conserved modulators of aging,” says Kaeberlein. As 15 of the 25 yeast genes are highly similar to known human genes, Kaeberlein adds that this work is readily applicable to human aging research. “It is reasonable to speculate that many of the genes identified in our study also regulate longevity in humans.”

In addition to identifying related pairs of aging-associated genes in yeast and nematodes, the group also investigated whether these genes are involved in common functional pathways. “We find that there is significant overlap between nematode and yeast aging genes, particularly those in nutrient-response pathways,” describes Kennedy. Signaling pathways involved in the response to nutrients have previously been implicated in the regulation of aging. “This finding indicates that two very different species age through overlapping mechanisms and suggests that these mechanisms are likely to also contribute to human aging.”

The genes identified in this study now provide a foundation for extending this research to a higher model organism, and ultimately for understanding human aging. “It will be important to determine how each of these genes modulate aging at the molecular level, and to test whether they also modulate aging in a mammalian model, such as mice,” says Kaeberlein. “In principle, any of these genes could be a useful therapeutic target for treating age-associated diseases.”

Scientists from the University of Washington (Seattle, WA) and the University of Georgia (Athens, GA) contributed to this study.

This work was supported by grants from the Ellison Medical Foundation and the National Institutes of Health.

“Quantitative evidence for conserved longevity pathways between divergent eukaryotic species.”
Smith, E.D., Tsuchiya, M., Fox, L.A., Dang, N., Hu, D., Kerr, E.O., Johnston, E.D., Tchao, B.N., Pak, D.N., Welton, K.L., Promislow., D.E.L., Thomas, J.H., Kaeberlein, M., and Kennedy, B.K.

Genome Res. doi:10.1101/gr.074724.107.

About Genome Research

Genome Research is an international, continuously published, peer-reviewed journal published by Cold Spring Harbor Laboratory Press. Launched in 1995, it is one of the five most highly cited primary research journals in genetics and genomics. Genome Research

About Cold Spring Harbor Laboratory Press

Cold Spring Harbor Laboratory Press is an internationally renowned publisher of books, journals, and electronic media, located on Long Island, New York. It is a division of Cold Spring Harbor Laboratory, an innovator in life science research and the education of scientists, students, and the public.

Cold Spring Harbor Laboratory Press

Gene Mutations Responsible For 10 Percent Of Schizophrenia Pinpointed By Researchers

Scans of the genome of patients with schizophrenia have revealed rare spontaneous copy number mutations that account for at least 10 percent of the non-familial cases of the disease. Researchers describe specific genetic mutations present in individuals who have schizophrenia, but not present in their biological parents who do not have the disease. These individuals were eight times more likely to have these mutations than unaffected individuals. This new data, reported in the May 30 on-line issue of Nature Genetics, will help researchers account for the persistence of schizophrenia in the population despite low birth rates among people with the disease.

Researchers at Columbia University Medical Center scanned the genome of 1,077 people which included 152 individuals with schizophrenia, 159 individuals without schizophrenia, and both of their biological parents for copy number mutations. They found mutations, either a gain or loss of genes, in 15 individuals diagnosed with schizophrenia that were not present in the chromosomes of either biological unaffected parent. Only two of such mutations were found in those without schizophrenia. Study subjects were from the European-origin Afrikaner population in South Africa, a genetically homogenous population that is ideal for genetic evaluation.

“We now know the cause of around 10 percent of the cases of sporadic schizophrenia,” said Maria Karayiorgou, M.D., professor of psychiatry, Columbia University Medical Center, the senior author on the study. “Schizophrenia is not as much of a ‘big black box’ as it used to be. The identification of these genes lets us know what brain development pathways are involved in disease onset, so that in the future we can look at better ways of treating this devastating disease.”

Schizophrenia affects approximately 1 percent of the population worldwide. About 40 percent of the disease is thought to be inherited, with the other 60 percent sporadically showing up in people whose family history does not include the disease.

One of the new or de novo mutations researchers found in more than one affected individual in this study was a deletion of a region of chromosome 22. Dr. Karayiorgou had previously provided evidence that loss of genes in this region, 22q11.2, was responsible for introducing “new” or sporadic cases of schizophrenia in the population. This confirms 22q11.2 as the only known recurrent such mutation linked to schizophrenia.

“We have already demonstrated 22q11.2 to be involved in sporadic schizophrenia and we have made considerable progress in understanding the underlying biological mechanisms,” said Dr. Gogos. “Now, we have a new set of mutations that we can investigate. The more information we have about the biological basis for this disease, the more information we can provide to those who suffer from it and their families.”

“Such abnormal deletions or duplications of genetic material are increasingly being implicated in schizophrenia and autism,” explains National Institute of Mental Health Director Thomas R. Insel, M.D. “Now we have a dramatic demonstration that genetic vulnerabilities for these illnesses may stem from both hereditary and non-hereditary processes. This line of research holds promise for improved treatments – and perhaps someday even prevention – of developmental brain disorders.”

Karayiorgou and co-senior author Joseph A. Gogos, M.D., Ph.D., associate professor of physiology and neuroscience at Columbia University Medical Center, agree that the goal is for psychiatrists to be able to inform patients that they have a mutation that is causing their disease and ultimately to be able to tailor treatments to individual patients based on their specific mutation. This tailored treatment is a ways off, according to Dr. Karayiorgou, but she says patients and their families are relieved to know that there is a biological cause of their illness.

The researchers plan to extend their screen for additional de novo mutations by using increased resolution scans to study additional families. They also plan to scrutinize further genes affected by the identified mutations through human genetics and animal model approaches.


The first author of this study, Bin Xu, is also from CUMC. Co-authors include J. Louw Roos from the Department of Psychiatry and Elizabeth J. van Rensburg from the Department of Genetics at the University of Pretoria in Pretoria in South Africa, and Shawn Levy from the Microarray Shared Resource at Vanderbilt University in Nashville, Tenn.

This study was supported by the National Institutes of Health’s (NIH) National Institute of Mental Health (NIMH) and the Lieber Center for Schizophrenia Research at Columbia University Medical Center.

Columbia University Medical Center provides international leadership in basic, pre-clinical and clinical research, in medical and health sciences education, and in patient care. The medical center trains future health care leaders at the College of Physicians & Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions. Established in 1767, Columbia’s College of Physicians & Surgeons was the first in the country to grant the M.D. degree. CUMC is home to the largest medical research enterprise in New York state and one of the largest in the United States. Visit

Columbia Psychiatry is ranked among the best departments and psychiatric research facilities in the nation and has contributed greatly to the understanding of and current treatment for psychiatric disorders including depression, suicide, schizophrenia, bipolar and anxiety disorders, and childhood psychiatric disorders. Located at the New York State Psychiatric Institute on the NewYork-Presbyterian Hospital/Columbia University Medical Center campus in the Washington Heights community of Upper Manhattan, the department enjoys a collaborative relationship with physicians in various disciplines at Columbia University’s College of Physician and Surgeons. Visit columbiapsychiatry/.

Source: Susan Craig

Columbia University Medical Center

A World First: Dutch Invention Makes Unsuccessful Punctures A Thing Of The Past

On October 6, the VascuLuminator was introduced in the Netherlands. Dutch professor Ruud Verdaasdonk developed the device at University Medical Center (UMC) Utrecht. When the device is used, the chance of unsuccessful punctures drops from 13% to 2%.

Getting it right the first time

Many children and adults are frightened of having their blood drawn or having an intravenous line inserted. The procedure sometimes does indeed go wrong, and then another puncture is necessary. This is distressing, and what’s more, it increases the risk of bruises and complications. Dutch professor Ruud Verdaasdonk developed a device that makes it much easier for doctors to get it right the first time. He hit upon the idea because punctures were often unsuccessful in his young son, who has dark skin.

Veins can be hard to find

Some people have blood vessels that are harder to see, which makes it more difficult to insert a needle into a blood vessel for drawing blood or placing an intravenous line. For example, there is a greater risk of missing the blood vessel in babies because of their baby fat. Obese people’s veins are also deeper down, which means they are more difficult to find. In addition, the VascuLuminator is particularly suited for use in people with dark skin. Children with chronic diseases can also benefit, because they regularly undergo such procedures and the punctures are often unsuccessful. As a result, they are more likely to be frightened.


Children quickly dubbed the long, narrow device the “Giraffe.” The official name of the “VascuLuminator” refers to what it does. “Vascu” comes from the word “vascular” (vein), and “Luminator” stands for “illumination”: So, it is a device that illuminates veins. The VascuLuminator uses an infrared LED light that shines thorough a patient’s limb and makes it possible to see the blood vessels on a screen at the very same moment. This means the anesthesiologist or laboratory technician is able to have a normal view of the skin and puncture site, unlike other devices that project an image onto the hand. It works like a GPS: The device is used to navigate around the vascular system, so that the doctor or technician knows exactly where to insert the needle. What is also “handy” is that the VascuLuminator can be operated with only one hand.


At UMC Utrecht, Natascha Cuper is studying how the VascuLuminator works, and, based on her work, will receive her PhD in early 2011: “This research has shown that by using the VascuLuminator, the percentage of unsuccessful punctures has dropped from 13% to 2%.” It is also more efficient, because the doctor needs less time to insert the needle right the first time in a child who is likely to be afraid.

Innovations in health care

The VascuLuminator was invented at UMC Utrecht. It was developed by Pontes Medical, a new cooperative venture involving three Dutch university medical centers (Academic Medical Center (AMC) in Amsterdam, UMC Utrecht, and VU University Medical Center (VUmc), also in Amsterdam) in the field of practical innovations in health care.

Source :

University Medical Center Utrecht (UMC Utrecht)

Pontes Medical