Surprising genetic link between kidney defects and neurodevelopmental disorders in kids
Public release date: 15-Nov-2012 [ | E-mail | Share ]
Contact: Karin Eskenazi ket2116@columbia.edu 212-342-0508 Columbia University Medical Center
New York, NY (November 15, 2012) About 10 percent of kids born with kidney defects have large alterations in their genomes known to be linked with neurodevelopmental delay and mental illness, a new study by Columbia University Medical Center (CUMC) researchers has shown.
The study was published today in the online edition of the American Journal of Human Genetics.
Congenital defects of the kidney and urinary tract account for nearly 25 percent of all birth defects in the US and are present in about 1 in every 200 births. Eventually, an evaluation for genomic alterations will be part of the standard clinical workup. Patients with congenital kidney diseasewho are currently lumped into one categorywill be placed in subgroups based on their genetic mutations and receive a more precise diagnosis.
"This changes the way we should handle these kids," said kidney specialist Ali Gharavi, MD, associate professor of medicine at CUMC, associate director of the Division of Nephrology, and an internist and nephrologist at NewYork-Presbyterian Hospital.
"If a physician sees a child with a kidney malformation, that is a warning sign that the child has a genomic disorder that should be looked at immediately because of the risk of neurodevelopmental delay or mental illness later in life," he said. "This is a major opportunity for personalizing medical care. As we learn which therapies work best for each subgroup, the underlying genetic defect of the patient will dictate what approach to take."
The current study was the result of a large collaborative effort of CUMC and other medical centers in the US, Italy, Poland, Croatia, Macedonia, and the Czech Republic. It was led by Dr. Gharavi and his colleague Simone Sanna-Cherchi, MD, an associate research scientist in CUMC's Department of Medicine.
Until now, no studies have linked congenital kidney disease with neurodevelopmental disorders.
"If you talk to clinicians, they tell you that some of these kids behave differently," Dr. Sanna-Cherchi said. "There has been a general assumption, though, that behavioral or cognitive issues in children with chronic illnesses such as kidney disease stem from the child's difficulty in coping with the illness. Our study suggests that in some cases, neurodevelopmental issues may be attributable to an underlying genomic disorder, not the kidney disease."
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Surprising genetic link between kidney defects and neurodevelopmental disorders in kids
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Genetic Link Found In Children With Kidney Defects And Neurodevelopmental Disorders
Editor's Choice Main Category: Urology / Nephrology Also Included In: Pediatrics / Children's Health;Genetics Article Date: 16 Nov 2012 - 10:00 PST
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Around 10 percent of kids with kidney defects have these mutations in their genomes, also known to be associated with mental illness and neurodevelopmental delay.
Congenital urinary tract and kidney defects make up about 25 percent of all birth defects in the United States and are found in one in every 200 births.
At last, an analysis for genomic alterations will be included in standard clinical workup. Patients who have congenital kidney disorder, presently included in one group, will be put into subcategories according to their genetic mutations, resulting in a more specific diagnosis.
Kidney specialist Ali Gharavi, MD, associate professor of medicine at CUMC, associate director of the Division of Nephrology, and an internist and nephrologist at NewYork-Presbyterian Hospital says:
This study was a broad collaboration of CUMC and other medical centers worldwide. Up until this point, no studies have successfully connected congenital kidney disease with neurodevelopmental disorders.
Simone Sanna-Cherchi, MD, an associate research scientist in CUMC's Department of Medicine explains:
Nearly 20 percent of kidney defects come from big DNA mutations. The mutations identified by Drs. Gharavi and Sanna-Cherchi and their team, are in a class of mutations known as copy number variations (CNVs).
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Genetic Link Found In Children With Kidney Defects And Neurodevelopmental Disorders
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New genetic test provides precise, yet hazy results
A patient receives an ultrasound before a new genetic test for potential fetus abnormalities Oct. 4 at obstetrician Susan Klugman's office in Scarsdale, N.Y.(Photo: Carucha L. Meuse, The (Westchester, N.Y.) Journal News)
WESTCHESTER, N. Y. -- A new test, called chromosomal microarray technology, is providing doctors and prospective parents with more information than ever before about the genetic makeup of a baby still in the womb.
But what that knowledge actually means is not always clear, causing confusion and anxiety for parents and physicians.
Michelle Catalano had no reason to think her fourth baby wouldn't be born as healthy as her other three.
But because the Eastchester, N.Y., resident was 36 -- a year into the territory obstetricians ominously describe as "advanced maternal age" -- she was given the option of using the new technology to test whether her baby was developing free of genetic defects that could signal trouble.
"It's an evolving technology," said David Kronn, chief of medical genetics at Maria Fareri Children's Hospital at Westchester Medical Center in Valhalla, N.Y. The results, he said, aren't always cut and dried.
Susan Klugman, an obstetrician in Larchmont and Yonkers, N.Y., and 300 of her patients recently took part in a nationwide study of chromosomal microarray technology to determine how effective the method is.
"This zooms down and looks at the specific genetic material in the chromosomes to make sure nothing is missing or nothing is extra," said Klugman, director of reproductive genetics at Montefiore Medical Center and an associate professor at Albert Einstein College of Medicine.
Initial results of the study submitted early this year at the Society for Maternal-Fetal Medicine showed that prenatal chromosomal microarray technology can detect more genetic abnormalities than current methods.
Klugman now offers the test to select patients in her practice.
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Obamacare
Obamacare Origin of Nazi Holocaust - Eugenics / Euthanesia
Few may realize it, but the Holocaust started in the national healthcare system of Germany with a project called the T4 program. It began with the idea that the distribution of healthcare should be based on the welfare of society, according to Government priorities. Hitler ordered the hospitals and mental institutions to euthanize hundreds of thousands of the handicapped and mentally ill, in order to save money. In any universal healthcare system the Government will be deciding at some level, who gets healthcare and who doesn #39;t, that is, who lives and who dies. Much of the early work in Eugenics was done in the United States and Hitler was inspired by the work by of American scientists. Eugenics is the idea that Government can improve that health of the population by making decisions that change the genetics of the population. The German government decided that the Jewish race is genetically inferior and their genes should be eliminated from the population. Many of the techniques used in the extermination of the Jews were developed in the hospitals of the German universal healthcare system. Following is an excerpt of a documentary on the Nazi T4 program. Obamacare Eugenics -- Why the Government should NOT Control Healthcare! stop-obama-now.netFrom:SoNSanDiegoViews:73 4ratingsTime:03:37More inNews Politics
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Gregory Stock – Aging: The Disease, The Cure, The Implications – Video
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Bernard Siegel – Aging: The Disease, The Cure, The Implications – Video
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Genetics study into lung condition
British scientists are to conduct the world's largest study of the genetics behind the lung condition chronic obstructive pulmonary disease (COPD).
Data from 50,000 individuals will be used to determine genetic variants linked to susceptibility to COPD.
In particular, researchers want to see how COPD genes relate to smoking, a major risk factor for the disease.
COPD comprises a group of disorders including chronic bronchitis and emphysema. Each year it affects around 900,000 people in the UK, causes 30,000 deaths, and costs the NHS 500 million.
Details of the new study are being released to mark World COPD Day.
The scientists will draw on the resources of the new UK Biobank, which holds genetic samples as well as health and lifestyle information on half a million volunteers.
Lead researcher Professor Ian Hall, dean of Nottingham Medical School, said: "We currently know very little about why there is such a wide difference in lung health even among smokers. It may have something to do with genetics so we're extremely excited about using the unique resource of the UK Biobank to test this theory."
The work is being funded by the Medical Research Council (MRC). Professor David Lomas, chair of the MRC Population and Systems Medicine Board, said: "We know that smoking is unhealthy for anyone but we know little about why the lungs of most smokers are seriously affected, while those of some seem to stay relatively healthy.
"If we knew more about the genetics that cause this variation we would be better able to direct treatments to those who are most at risk and have an increased chance of developing drugs to target this type of lung disease."
Scientists from the University of Nottingham, the University of Leicester, and St George's, University of London, are taking part in the research.
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Lucid PR: COBB-VANTRESS AND HENDRIX GENETICS EXTEND R&D PARTNERSHIP
WASHINGTON--(BUSINESS WIRE)--
Affordable and higher quality food will result from new genetic advances inspired by a unique industry collaboration. Two of the worlds largest animal breeding companies aim to achieve further breakthroughs in the field of genomics during the next three years of a joint development agreement (JDA).
Arkansas-based Cobb-Vantress Inc. and Hendrix Genetics B.V. which is headquartered in Boxmeer in the Netherlands initially set up the JDA in 2008 to share and promote expertise, particularly in the fast-growing field of genomics. Already new genomic selection tools have been discovered and developed, such as the cutting-edge SNP Chip for chickens. This is a glass slide that can analyze between 60,000 and 1 million variations in DNA sequences - or Single Nucleotide Polymorphisms (SNPs) - which act as biological markers and help scientists locate a range of genes associated with disease.
The extended agreement will intensify efforts to develop new tools and discover fresh insights into animal genomics in order to improve breeding programs and help increase world food production.
Dr. Gerard Albers, head of research and technology at Hendrix Genetics, said: This is like two renowned chefs sharing recipes, swapping thoughts and ideas on how to create a perfect dish. There are many ways to create this dish, many ingredients that can be used, and with shared views we are able to come closer to this perfect dish.
The collaboration is the biggest within the animal breeding industry and will produce animals that are more productive, less susceptible to disease and at reduced cost, therefore helping to tackle global food shortages. According to the United Nations World Food Program there are 870 million undernourished people in the world today.
The JDA will also strengthen Cobbs leading position in broiler breeding and Hendrix Genetics renowned role in layer hen, turkey, pig and aquaculture genetics, while enabling the two companies to further explore joint venture business opportunities.
Cobb-Vantress is the worlds leading supplier of broiler breeding stock and technical expertise for the chicken meat industry. It has about 2,500 employees and serves the industry in more than 90 countries.
Hendrix Genetics has nearly 2,400 employees worldwide and operations in 24 countries and provides expertise and resources to producers in more than 100 countries.
Jerry Moye, president of Cobb-Vantress, said: The joint efforts of the Hendrix and Cobb R&D teams have provided valuable knowledge for both of our companies. Cobb is excited to continue our partnership with Hendrix Genetics. We look forward to discovering what opportunities may be in our future.
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Lucid PR: COBB-VANTRESS AND HENDRIX GENETICS EXTEND R&D PARTNERSHIP
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Atossa Genetics, Inc. Announces Closing of Initial Public Offering
SEATTLE, WA--(Marketwire - Nov 14, 2012) - Atossa Genetics, Inc. ( NASDAQ : ATOS ) announced today the closing of its initial public offering of 800,000 shares of its common stock at an initial public offering price of $5.00 per share. Atossa Genetics' common stock is traded on the NASDAQ Capital Market under the trading symbol "ATOS."
Dawson James Securities, Inc. acted as the sole book-running manager and lead underwriter for this offering along with ViewTrade Securities, Inc. and Paulson Investment Company.
A copy of the final prospectus relating to the offering may be obtained by contacting Monique Maclaren of Dawson James Securities, Inc. at (561) 391-5555 or by emailing mmaclaren@dawsonjames.com or by standard mail at 925 S. Federal Highway, Suite 600, Boca Raton, FL 33432. You may also obtain these documents for free by visiting EDGAR on the SEC's website at http://www.sec.gov.
A registration statement relating to these securities was declared effective by the Securities and Exchange Commission on November 7, 2012. This offering was made solely by means of a prospectus. This press release shall not constitute an offer to sell or the solicitation of an offer to buy, nor shall there be any sale of these securities in any state or other jurisdiction in which such an offer, solicitation or sale would be unlawful prior to registration or qualification under the securities laws of any such state or jurisdiction.
About Atossa Genetics, Inc.
Atossa Genetics, Inc., The Breast Health Company, is based in Seattle, Washington, and is focused on the prevention of breast cancer through the commercialization of diagnostic medical devices and tests that can detect precursors to breast cancer, and through research and development that will permit it to commercialize treatments for pre-cancerous lesions.
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Atossa Genetics, Inc. Announces Closing of Initial Public Offering
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Interleukin Genetics Reports Third Quarter 2012 Financial Results
WALTHAM, Mass.--(BUSINESS WIRE)--
Interleukin Genetics,Inc. (ILIU) today announced financial and operational results for the third quarter ended September 30, 2012.
Total revenue for the three months ended September 30, 2012 was $420,000, compared to $765,000 for the same period in the prior year. The decrease was primarily attributable to a decrease in genetic tests returned and processed and lower sales of our Inherent Health brand of genetic tests through our Merchant Network and Channel Partner Agreement with Amway Global. Cash received from genetic test sales is reflected as deferred revenue until the test report is issued. Deferred revenue increased $146,000 to $971,000 at September 30, 2012 as compared to December 31, 2011.
Research and development expenses were $246,000 for the three months ended September 30, 2012, compared to $325,000 for the same period in the prior year. The decrease was primarily attributable to lower consulting costs partially offset by increased compensation costs.
Selling, general, and administrative expenses were $1.0 million for the three months ended September 30, 2012, compared to $1.1 million for the same period in the prior year. The decrease was primarily attributable to lower patent related legal fees, insurance, consulting and sales commissions paid to Amway partially offset by increased professional fees and employee separation costs.
The Company reported a net loss of $1.3 million, or $(.03) per basic and diluted common share, for the third quarter of 2012 compared to $1.1 million, or $(.03) per basic and diluted common share, for the same period in 2011. On September 30, 2012, the Company had cash and cash equivalents of $2.5 million.
The Company expects that its current and anticipated financial resources are adequate to maintain current and planned operations at least through November 30, 2012, the due date of its credit facility with Pyxis Innovations, Inc., and through March 31, 2013 if the due date of the credit facility is extended. Management is in discussions with Pyxis to extend this due date. The Companys independent registered public accounting firm has included an explanatory paragraph in their opinion in connection with the 2011 audit, relating to the Company's ability to continue as a going concern.
We are encouraged by the positive top line results received from the University of Michigan study that employed our PST test. The results of the study should provide the evidence to support broader use of this test to both improve preventive dental care and favorably influence healthcare costs. We are now focused on ramping up the broad commercialization of our PST genetic test for improved management of dental patients, said Kenneth S. Kornman, Chief Executive Officer of Interleukin Genetics.
Conference Call and Webcast Information
Interleukin Genetics will host a live conference call and webcast today at 4:30 p.m. EST to review the Companys new business developments and third quarter financial results. To access the live call, dial 877-324-1976 (domestic) or 631-291-4550 (international). The live webcast and replay access will be available on the Investors section of the Companys Website at: http://www.ilgenetics.com.
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Interleukin Genetics Reports Third Quarter 2012 Financial Results
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Myriad Genetics to Present at the Piper Jaffray Healthcare Conference
SALT LAKE CITY, Nov. 15, 2012 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN) announced today that Peter D. Meldrum, President and CEO, is scheduled to present at the Piper Jaffray Healthcare Conference, at 4:00 p.m. Eastern Time on Tuesday, November 27, 2012. The conference is being held at The New York Palace in New York, New York.
The presentation will be available to interested parties through a live webcast accessible on the investor relations section of Myriad's website at http://www.myriad.com.
About Myriad Genetics
Myriad Genetics is a leading molecular diagnostic company dedicated to making a difference in patients' lives through the discovery and commercialization of transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. Myriad's portfolio of molecular diagnostic tests are based on an understanding of the role genes play in human disease and were developed with a commitment to improving an individual's decision making process for monitoring and treating disease. Myriad is focused on strategic directives to introduce new products, including companion diagnostics, as well as expanding internationally. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com
Myriad, the Myriad logo, BRACAnalysis, Colaris, Colaris AP, Melaris, TheraGuide, Prezeon, OnDose, Panexia and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and foreign countries. MYGN-G
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Myriad Genetics to Present at the Piper Jaffray Healthcare Conference
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Advocation against Gene Therapy – Video
Advocation against Gene Therapy
Antony Vorobyov ENG 111 NK Ms. Soares 11-14-2011From:Antony VorobyovViews:1 0ratingsTime:05:17More inFilm Animation
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Advocation against Gene Therapy - Video
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Essentials Of Genomic And Personalized Medicine – Video
Essentials Of Genomic And Personalized Medicine
ll4.me Essentials Of Genomic And Personalized Medicine Derived from the comprehensive two-volume set, Genomic and Personalized Medicine also edited by Drs. Willard and Ginsburg, this work serves the needs of the evolving population of scientists, researchers, practitioners and students that are embracing one of the most promising avenues for advances in diagnosis, prevention and treatment of human disease. From principles, methodology and translational approaches to genome discoveries and clinical applications, Essentials ofGenomic and Personalized Medicine will be a valuable resource for various professionals and students across medical disciplines, including human genetics and genomics, oncology, neuroscience, gene therapy, molecular medicine, pharmacology, and biomedical sciences. Updates with regard to diagnostic testing, pharmacogenetics, predicting disease susceptibility, and other important research components as well as chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, present this book as an essential tool for a variety of professionals and students who are endeavouring into the developing the diverse and practical field of genomic and personalized medicine.* Full color throughout* Includes contributions on genetic counselling, ethical, legal/regulatory, and social issues related to the practice of genomic medicine from leaders in the field * Introductory chapter ...From:melissawatkins987Views:0 0ratingsTime:00:10More inPeople Blogs
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Essentials Of Genomic And Personalized Medicine - Video
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Clinical Pharmacology: Current Topics And Case Studies – Video
Clinical Pharmacology: Current Topics And Case Studies
ll4.me Clinical Pharmacology: Current Topics And Case Studies 1. Introduction- The discipline of Clinical Pharmacology- Markus Mller; Professor of Clinical Pharmacology, Vienna, Austria- Example: EACPT position paper- Current issues in drug development- Markus Mller; Professor of Clinical Pharmacology, Vienna, Austria- Example: Pfizer- Current issues in drug regulation- Marcus Mllner / Hans Georg Eichler; Professor and Head, Austrian Medicines Agency AGES, Vienna, Austria / Professor and Senior Medical Officer, EMEA, London, UK- Example: EMEA - Current issues in drug reimbursement- Anna Bucsics; Medical Director, Austrian Board of Social Security Institutions- Example: comparative effectiveness - 2. Clinical Trials- Ethics of clinical research- Ernst Singer; Professor and Head, Ethics Committee, Medical University Vienna, Austria- Example: Nrnberg, Helsinki, Belmont- GCP, Scientific misconduct- Brigitte Blchl-Daum; Professor of Clinical Pharmacology, Vienna, Austria- Example: Tuskegee, Vioxx- Phases of drug development, first in man studies- Bernd Jilma; Professor of Clinical Pharmacology, Vienna, Austria- Example: Tegenero- Clinical trials interventional studies- Michael Wolzt; Professor of Internal Medicine, Vienna, Austria- Example: CAST- Clinical trials observational studies- Ch. Male / H. Herkner; Professor of Pediatrics, Vienna, Austria/ Professor of Internal Medicine, Vienna, Austria- Example: CDC "Outbreak"- Pharmacokinetics / Pharmacodynamics- Hartmut Derendorf ...From:meganhorne326Views:1 0ratingsTime:00:12More inPeople Blogs
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Clinical Pharmacology: Current Topics And Case Studies - Video
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