Researchers from BGI, working within the Metagenomics of the Human Intestinal Tract (MetaHIT) project, and in collaboration with other institutions around the world , have established the highest quality integrated gene set for the human gut microbiome to date- a close-to-complete catalogue of the microbes that reside inside us and massively outnumber our own cells. While the roughly 20,000 genes in the human genome have been available for over a decade, the gene catalog of the microbiome, our much larger "other genome," has to date been much more poorly understood and characterized.

The data released from this study should facilitate further research on the interactions between human and microbial genomes, and brings us closer to an understanding of how to maintain the microbial balance that keeps us healthy. The latest study was published online today in the journal Nature Biotechnology.

Each of our guts is colonized by more than 3 pounds of microorganisms that can break down toxins, manufacture vitamins and essential amino acids, and form a barrier against invaders. However, until now there has been a lack of comprehensive and uniformly processed database resources cataloging the human gut microbiota around the world, which has hindered our knowledge of the genetic and functional mechanism of human gut microbes.

In this study, researchers established a catalog of the human gut microbial genes by processing 249 newly sequenced samples and 1,018 published samples from MetaHIT, Human Microbiome Project (HMP) and a large diabetes study from China, as well as 511 sequenced genomes of gut-related bacteria and archaea. This expanded research is at least three times larger than the cohorts used for previous gene catalogs.

Based upon the catalog, researchers investigated the gut microbiota of healthy Chinese and Danish adults, and found the two cohorts greatly differed in nutrient metabolism as well as xenobiotic detoxification, which might be influenced by the differences in diet and environment. In addition, they observed enrichment in possible antibiotic resistance genes both at the population level (penicillin resistance in Danes and multidrug resistance in Chinese) and in the individual-specific genes, which highlighted the need for close monitoring of direct and indirect exposure to antibiotics.

Individual-specific genes contributed overwhelmingly to the increased total gene number in the integrated gene catalog and were overrepresented in genes responsible for the synthesis of cell wall components, DNA-related functions such as transposases, endonucleases and DNA methylases and encoding phage-related proteins. Such individual-specific genes likely reflect adaptation and might reflect the distinct combination of genetic, nutritional and medical factors in a host.

This nonredundant reference catalog of over 9.8 million genes is freely accessible through the website and the data have also been deposited in BGI's GigaScience Database, GigaDB and the SRA. It provides a much expanded and invaluable resource for global researchers to more deeply explore the geographical, genetic, temporal and physiological characteristics of gut microbes.

Junhua Li, Research Scientist from BGI, said, "Catalogs of reference genes in the human gut microbiome should facilitate quantitative characterization of multi-omic data from the gut microbiome to understand its variation across populations in human health and disease."

Story Source:

The above story is based on materials provided by BGI Shenzhen. Note: Materials may be edited for content and length.

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High-quality gene catalog of human gut microbiome created

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PUBLIC RELEASE DATE:

8-Jul-2014

Contact: Kathryn Ruehle kruehle@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 8, 2014For African American women in their 50's and 60's, self-managing their HIV as they age is proving to be less of a challenge than dealing with age-related diseases such as diabetes or hypertension and socioeconomic and emotional aspects of aging, as described in a study published in AIDS Patient Care and STDs, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the AIDS Patient Care and STDs website at http://online.liebertpub.com/doi/full/10.1089/apc.2014.0024 until August 8, 2014.

In the article "Taking It One Day at a Time: African American Women Aging with HIV and Co-Morbidities," Lari Warren-Jeanpiere, PhD, Pilar Hamilton, Mary Young, MD, and Lakshmi Goparaju, PhD, Georgetown University (Washington, DC), and Heather Dillaway, PhD, Wayne State University (Detroit, MI), examined how well older women who acquired HIV at a young age are able to manage HIV as they also now cope with the co-morbidities and social responsibilities of aging, changes in their work and medical insurance status, and desires for companionship and romantic relationships.

"Studies indicate that by 2015 half of the people living with HIV in the U.S. will be more than 50 years old, and the face of AIDS is changing, with an increasing prevalence among women of color," says journal Editor-in-Chief Jeffrey Laurence, MD, Director of the Laboratory for AIDS Virus Research at Weill Medical College of Cornell University, New York, NY.

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About the Journal

AIDS Patient Care and STDs is the leading journal for clinicians, enabling them to keep pace with the latest developments in this evolving field. Published monthly in print and online, the Journal spans the full spectrum of adult and pediatric HIV disease, diagnosis, treatment, prevention, and education. Tables of content and a sample issue may be viewed on the AIDS Patient Care and STDs website at http://www.liebertpub.com/apc.

About the Publisher

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Growing old with HIV: Age-related diseases are bigger problem for African American women

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PUBLIC RELEASE DATE:

8-Jul-2014

Contact: Kathryn Ruehle kruehle@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 8, 2014Novel oligonucleotide-based drugs in development offer promising alternatives for treating a range of diseases. A group of industry and regulatory scientists developing these new nucleic acid-based therapies released consensus recommendations for evaluating the pharmacological safety of oligonucleotide therapeutics. The document is published in Nucleic Acid Therapeutics, a peer-reviewed journal from Mary Ann Liebert, Inc. publishers. The article is available on the Nucleic Acid Therapeutics website.

Cindy Berman and coauthors from Pfizer Pharmaceuticals, GlaxoSmithKline, Preclinsight, Merck Sharp & Dohme Corp., Tepper Nonclinical Consulting, and Isis Pharmaceuticals provide the consensus opinion of the Safety Pharmacology Subcommittee of the Oligonucleotide Safety Working Group in the article "Recommendations for Safety Pharmacology Evaluations of Oligonucleotide-Based Therapeutics." The recommendations emphasize in particular the importance of safety pharmacology studies to evaluate the potential effects of systemically administered oligonucleotide-based drugs on cardiovascular function.

"It is our hope that during this period of rapid advancement both regulators and researchers alike will recognize and benefit from these carefully considered safety testing recommendations," says Executive Editor Graham C. Parker, PhD, The Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI.

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Nucleic Acid Therapeutics is under the editorial leadership of Co-Editors-in-Chief Bruce A. Sullenger, PhD, Duke Translational Research Institute, Duke University Medical Center, Durham, NC, and C.A. Stein, MD, PhD, City of Hope National Medical Center, Duarte, CA; and Executive Editor Graham C. Parker, PhD.

About the Journal

Nucleic Acid Therapeutics is an authoritative, peer-reviewed journal published bimonthly in print and online that focuses on cutting-edge basic research, therapeutic applications, and drug development using nucleic acids or related compounds to alter gene expression. Nucleic Acid Therapeutics is the official journal of the Oligonucleotide Therapeutics Society. Complete tables of content and a free sample issue may be viewed on the Nucleic Acid Therapeutics website.

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PUBLIC RELEASE DATE:

8-Jul-2014

Contact: Gina DiGravio gina.digravio@bmc.org 617-638-8480 Boston University Medical Center

Boston University School of Medicine (BUSM) received major funding from the National Institute on Aging (NIA) as part of a national effort to identify rare genetic variants that may protect against and contribute to Alzheimer's disease risk.

The four-year, $3 million grant, "Identifying Risk and Protective Variants for AD Exploring their Significance and Biology" is led by Sudha Seshadri, MD, professor of neurology at BUSM and a Senior Investigator at the Framingham Heart Study and for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. This project is linked to CHARGE projects at two other universities which all together received grants totaling more than $10 million. Other BU investigators who are part of the CHARGE project are Anita DeStefano, PhD, Adrienne Cupples, PhD, and Josee Dupuis, PhD, who are professors of biostatistics, and Honghuang Lin, PhD, assistant professor of medicine.

"As a neurologist treating patients with Alzheimer's disease, it is very exciting to see the increased recognition, at a national level, of the need to find more effective preventive and therapeutic measures," said Seshadri.

Alzheimer's disease, a progressive neurodegenerative disorder, has become an epidemic that currently affects 5.2 million people in the United States with economic costs that are higher than those of heart disease or cancer. Available drugs only marginally affect disease severity and progression. While there is no way to prevent this devastating disease, the discovery of genetic risk factors for Alzheimer's is bringing researchers closer to learning how the genes work together and to identifying the most effective intervention for the disease.

Genetics is a cornerstone of identifying targets for Alzheimer's disease therapies. This movement began in 2011, when President Barack Obama signed into law the National Alzheimer's Project Act (NAPA), mandating support for Alzheimer's research and health and long-term care services for affected individuals across all federal agencies. One of the first projects mandated by NAPA was the Alzheimer's Disease Sequencing Project (ADSP). With this funding, CHARGE becomes a member of the National Institute of Aging-mandated Sequence Analysis Consortium, which also includes three National Human Genome Research Institute (NHGRI) Large-Scale Sequencing Centers.

CHARGE investigators will analyze whole exome and whole genome sequence data generated from 6,000 subjects with Alzheimer's disease and 5,000 elderly individuals who do not have Alzheimer's disease. They also will study data from approximately 100 large families, mostly of Caribbean and Hispanic descent, that include multiple individuals with Alzheimer's disease to identify rare genetic variants that either protect against or cause Alzheimer's disease. They will also be contributing additional CHARGE data from over 11,000 subjects with information on genetic sequence and AD-related traits.

"AD currently has no effective treatment thus prevention is the primary strategy to combat this disease," said Boston University School of Medicine Dean Karen Antman, MD. "This is an exciting opportunity for our faculty to develop novel approaches that might ultimately delay or prevent AD."

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Boston University researchers receive NIH funding for genetic research in Alzheimer's disease

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PUBLIC RELEASE DATE:

8-Jul-2014

Contact: David Slotnick newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

(NEW YORK July 8, 2014) Key genetic variants may affect how cancer patients respond to radiation treatments, according to a study published this week in Nature Genetics. The research team, which included researchers at the Icahn School of Medicine at Mount Sinai, found that variations in the TANC1 gene are associated with a greater risk for radiation-driven side effects in prostate cancer patients, which include incontinence, impotence and diarrhea.

The current results are based on a genome-wide association study, a type of study in which researchers examine numerous genetic variants to see if any of them are associated with a certain type of complication, which could sometimes emerge years after treatment was completed.

"Our findings, which were replicated in two additional patient groups, represent a significant step towards developing personalized treatment plans for prostate cancer patients," said Barry S. Rosenstein, PhD, Professor, Radiation Oncology, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, the lead Mount Sinai investigator on the study. "Within five years, through the use of a predictive genomic test that will be created using the data obtained in the recent study, it may be possible to optimize treatment for a large number of cancer patients."

For the study, Dr. Rosenstein and his team obtained blood samples from nearly 400 patients who were receiving radiotherapy treatment for prostate cancer. The blood samples were screened for roughly one million genetic markers, and each patient was monitored for at least two years to track incidents of side effects from the radiation. Data analysis showed which genetic markers were consistently associated with the development of complications following radiotherapy.

"The next step is to validate the results, and see if the same markers predict similar outcomes in patients with other forms of cancer," said Dr. Rosenstein. Using the genomic test being developed, treatment plans can be adjusted to minimize adverse effects thereby allowing for an improved quality life for many cancer survivors.

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This study was conducted in partnership with USC University Hospital Complex and Fundacin Pblica Galega de Medicina Xenmica-SERGAS, Santiago de Compostela, Spain; University of Cambridge, Cambridge, UK; and The University of Manchester, Christie Hospital, Manchester, UK.

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Variations in key gene predict cancer patients' risk for radiation-induced toxicity

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Eric Niedermayer - Alcohol Genetics
Did you know that one in ten deaths in working-age adults in the U.S. is caused by drinking too much?

By: The Broadcast TV

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Eric Niedermayer - Alcohol Genetics - Video

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Genetics (here we go...) Q A Part 7/21
Sid Kudav Do you believe you have it in you to hit an 800lb deadlift one day? Also do you still consider yourself to not have great genetics, but average (one of your older videos), if so do...

By: Ben Rice

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Genetics (here we go...) Q&A Part 7/21 - Video

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Angus VNR: Quality genetics = premiums, profit
Neal Haverkamp, manager of Nemaha Valley Angus, a family operation near Bern, Kan., uses individual carcass data to target the CAB brand for himself and his customers. This video news is provided...

By: Angus TV

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FTB Monster: Ech #39;s Lab #12 - "Advanced Genetics: Squidman Rises"
We continue down the route of mad scientist and splice our DNA with that of various animals and monsters. What are the effects? Thank you for watching this s...

By: EchPlays

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FTB Monster: Ech's Lab #12 - "Advanced Genetics: Squidman Rises" - Video

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LONDON und LAUSANNE, Schweiz, July 8, 2014 /PRNewswire/ --

Investition soll Nutzung klinischer Analysen fr genetisch bedingte Krankheiten in Europa beschleunigen

Sophia Genetics, das fhrende europische Unternehmen im Bereich datengesttzter Medizin, hat in einer Serie-B-Finanzierungsrunde 13,75 Millionen US-Dollar an Mitteln beschafft, angefhrt durch Invoke Capital von Mike Lynch, Swisscom und Endeavour Vision.

Sophia Genetics ist ein Pionier in der datengesttzten Medizin, einem bergreifenden Gebiet, das umfangreiche Kompetenz mit Next Generation Sequencing (NGS) erfordert, kombiniert mit uerst genauen und skalierbaren voraussagenden Algorithmen zur Diagnose genetisch bedingter Erkrankungen. Mit dieser Investition verschafft sich Sophia Zugang zu Genalys, einem Unternehmen aus dem Portfeuille von Invoke, dessen in Cambridge angesiedelte Mathematiker Big-Data-Verfahren auf Genomdaten anwenden. Die Kombination bedeutet, dass Kliniker und Krankenhuser in ganz Europa Zugriff auf einen uerst genauen klinischen Analysedienst zur frhzeitigen Diagnose und optimierten Behandlung von Krebs und genetisch bedingten Erkrankungen erhalten.

Patienten knnen ihre DNA und ihre Krebstumor-DNA schneller und gnstiger denn je sequenzieren lassen, was bedeutet, dass sich die Krankheit einer einzelnen Person wesentlich besser nachvollziehen lsst als noch vor einigen Jahren. Dr. Mike Lynch sagte: "Die Herausforderung liegt jetzt in der Analyse, der Interpretation und dem Schutz der riesigen Mengen von Sequenzdaten, die durch diese neue Technologie generiert werden. Kurz gesagt ist ein entscheidender Teil davon ein Problem der Big-Data-Analyse, und ich denke, dass die ausgefeilten Algorithmen von Sophia und Genalys die klinische Genauigkeit liefern knnen, die fr eine sinnvolle und gezielte Behandlung erforderlich ist."

Bis vor kurzem hatten nur Forscher Zugriff auf die Art von Informationen, die Sophia Genetics nun in die Hnde von Klinikern legt, indem sie ihnen fr Europa zertifizierte Qualittssicherung in Sachen Genauigkeit, Zuverlssigkeit, Reproduzierbarkeit und Datensicherheit bietet. Durch das zum Patent angemeldete Verfahren zum Schutz von Genomdaten von Sophia Genetics, kombiniert mit der Fachkompetenz bei der Sicherung von Patientendaten von Invoke, ist Sophia Genetics seinen Konkurrenten um einige Schritte voraus und hlt dabei die strikten europischen Datenschutzgesetze vollstndig ein.

Hinter Sophia Genetics steht ein Trio von Mitbegrndern, die anerkannte Fachleute auf den Gebieten der Genetik, Bioinformatik und Molekularbiologie sind und ein hochqualifiziertes Team aus Doktortiteltrgern von den 10 weltweit fhrenden Universitten zusammengestellt haben. In nur drei Jahren hat Sophia Genetics Bioinformatik-Pipelines und Visualisierungstools fr ber 70 kommerzielle Panels und geschtzte magefertigte Panels entwickelt und weitet diese Kapazitt auf ganze Exome und Genome aus. Das Unternehmen erhlt fr jede untersttzte Pipeline eine CE-IVD-Kennzeichnung und wurde nach ISO 13485 zertifiziert.

"Die Medizin verndert sich, und ich bin stolz auf alles, was Sophia Genetics fr eine verbesserte Diagnose und Behandlung von Krankheiten tut. Die neue Finanzierung wird es uns gestatten, schneller auf die europischen Mrkte vorzudringen. Insbesondere Invoke Capital bringt umfangreiches Fachwissen im Bereich Datensicherheit mit, das unser Datenbankangebot fr genetische Sequenzierung sofort strken wird", sagte Jurgi Camblong, CEO von Sophia Genetics.

Hinweise an die Herausgeber

Informationen zu Sophia Genetics

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Sophia Genetics beschafft Kapital durch Serie-B-Runde unter Fhrung von Invoke Capital

Recommendation and review posted by Bethany Smith

LONDRES et LAUSANNE, Suisse, July 8, 2014 /PRNewswire/ --

L'investissement a pour but d'acclrer l'adoption europenne des analyses cliniques des pathologies gntiques

Sophia Genetics, leader europen dans le domaine de la mdecine base sur les donnes, a obtenu 13,75millions$ au cours d'un tour de financement de srie B organis par Invoke Capital - une socit fonde par le Dr Mike Lynch - Swisscom et Endeavour Vision.

Sophia Genetics est un pionnier en matire de mdecine base sur les donnes, un domaine de convergence ncessitant une expertise approfondie en matire de squenage de prochaine gnration (NGS) associe des algorithmes trs prcis, extensibles et prdictifs pour le diagnostic des pathologies gntiques. Grce cet investissement, Sophia peut accder Genalys, une socit appartenant Invoke dont les mathmaticiens bass Cambridge traitent les informations gnomiques avec des mthodes big data. Cette combinaison signifie que les cliniciens et les hpitaux dans l'ensemble de l'Europe peuvent obtenir des analyses cliniques trs prcises pour le diagnostic prcoce et le traitement optimis du cancer et des pathologies gntiques.

L'ADN des patients et celui de leurs tumeurs cancreuses peuvent tre squencs avec une rapidit et selon des cots ingals, ce qui signifie que la pathologie d'une personne peut tre comprise de faon inimaginable il y a seulement quelques annes. Selon le Dr M. Lynch: Le dfi se situe dsormais dans l'analyse, l'interprtation et la protection des normes quantits de donnes de squence gnres par cette nouvelle technologie. En bref, un lment cl est le problme de l'analyse des big data et je pense que les algorithmes sophistiqus de Sophia et de Genalys peuvent fournir la prcision clinique ncessaire pour des traitements cibls pertinents.

Il n'y a pas si longtemps, seuls les chercheurs avaient accs aux informations que Sophia Genetics propose dsormais aux cliniciens avec une assurance qualit homologue en Europe, pour la prcision, la fiabilit, la reproductibilit et la confidentialit. L'approche, en attente d'un brevet, de confidentialit gnomique de Sophia Genetics associe la propre expertise d'Invoke pour la protection des donnes du patient, signifie que Sophia Genetics est en avance sur le reste du secteur et totalement conforme aux lois rigoureuses de protection des donnes en Europe.

Les trois fondateurs de Sophia Genetics sont des experts reconnus dans le domaine de la gntique, de la bio-informatique et la biologie molculaire. Ils ont mis en place une quipe particulirement qualifie, compose de titulaires de doctorats des 10meilleures universits au monde. En l'espace de trois ans seulement, Sophia Genetics a dvelopp des pipelines bio-informatiques et des outils de visualisation pour plus de 70panels commerciaux et panels propritaires et est en train d'tendre cette capacit aux exomes et gnomes. La socit a obtenu la marque CE-IVD pour chaque pipeline pris en charge et a reu une certification ISO 13485.

La mdecine volue et je suis fier de tous les travaux entrepris par Sophia Genetics pour l'amlioration des diagnostics et des traitements des maladies. Ce nouveau financement nous permettra de pntrer plus rapidement dans les marchs europens. Invoke Capital fournit notamment un degr d'expertise pour la scurit des donnes dans le nuage et en matire d'extensibilit qui vont renforcer immdiatement notre offre de base de donnes de squenage gntique, dclare Jurgi Camblong, PDG de Sophia Genetics.

Remarques l'intention des diteurs

propos de Sophia Genetics

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Sophia Genetics conclut un tour de financement de srie B organis par Invoke Capital

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Gilbert, Arizona (PRWEB) July 08, 2014

The top Gilbert pain management clinic, Arizona Pain Specialists, is now offering over 25 effective back pain treatment options. The Arizona pain management center has now added regenerative medicine options along with cutting edge back pain treatments, which often provide over a year of pain relief. Call (480) 535-6722 to take advantage of the options.

Back pain affects 90% of individuals at some point. It may be disabling and prevent those affected from working, playing with one's kids or enjoying life. Arizona Pain continues to add back pain treatment options at its Gilbert location, combining both traditional and alternative therapies for optimal relief.

Board Certified pain management doctors work closely with chiropractors, acupuncturists and physical rehabilitation providers to customize treatment regimens for patients. New additions to the options include regenerative medicine treatments with stem cell procedures. These include both amniotic and bone marrow derived procedures.

Cutting edge additions to the interventional procedures include spinal cord stimulator implants and radiofrequency ablation procedures. These are excellent options for those suffering from chronic low back pain to provide much needed relief.

The Gilbert chiropractors at Arizona Pain offer revolutionary spinal decompression therapy, which is FDA cleared and effective in over 85% of patients. With all of the options available now with pain management Gilbert AZ trusts, Arizona Pain achieves over 95% success rates.

Over 50 insurance plans are accepted at the Center including PPO's, some HMO's, Medicare, Medicaid, personal injury liens, workers compensation and self pay as well. Call (480) 535-6722 for more information and scheduling.

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Top Gilbert Pain Management Center, Arizona Pain Specialists, Now Offering Over 25 Nonoperative Back Pain Treatments

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What Goes Wrong in the Brain of a Child with Autism Spectrum Disorder ?
Dr. Nandini Gokulchandran from Neurogen Brain and Spine Institute explains what goes wrong in the brain of a child with Autism Spectrum Disorder? Stem Cell Therapy done at Dr Alok Sharma...

By: Neurogen Brain and Spine Institute

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What Goes Wrong in the Brain of a Child with Autism Spectrum Disorder ? - Video

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Scotiabank Charity Challenge 2014
Three years ago, Spinal Cord Injury BC asked the organizers of the Scotiabank Charity Challenge for one simple thing. The result was even better than anyone could have imagined. Take a look...

By: Spinal Cord Injury BC

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PUBLIC RELEASE DATE:

7-Jul-2014

Contact: Steve Graff stephen.graff@uphs.upenn.edu 215-349-5653 University of Pennsylvania School of Medicine

PHILADELPHIA A University of Pennsylvania-developed personalized immunotherapy has been awarded the U.S. Food and Drug Administration's Breakthrough Therapy designation for the treatment of relapsed and refractory adult and pediatric acute lymphoblastic leukemia (ALL). The investigational therapy, known as CTL019, is the first personalized cellular therapy for the treatment of cancer to receive this important classification.

In early-stage clinical trials at the Hospital of the University of Pennsylvania and the Children's Hospital of Philadelphia, 89 percent of ALL patients who were not responding to conventional therapies went into complete remission after receiving CTL019.

"Our early findings reveal tremendous promise for a desperate group of patients, many of whom have been able to return to their normal lives at school and work after receiving this new, personalized immunotherapy," said the Penn research team's leader, Carl June, MD, the Richard W. Vague Professor in Immunotherapy in the department of Pathology and Laboratory Medicine in the Perelman School of Medicine and director of Translational Research in the Abramson Cancer Center of the University of Pennsylvania. "Receiving the FDA's Breakthrough Designation is an essential step in our work with Novartis to expand this therapy to patients across the world who desperately need new options to help them fight this disease."

The FDA's Breakthrough Therapy designation, created in 2012, is intended to expedite the development and review of new medicines both drugs and biologic agents that treat serious or life-threatening conditions, if the therapy has demonstrated substantial improvement over available therapies. The FDA has previously granted Breakthrough Therapy to only four other biologic agents.

In August 2012, Penn announced an exclusive global research and licensing agreement with Novartis to further study, develop and commercialize personalized chimeric antigen receptor (CAR) T cell therapies for the treatment of cancers. Trials employing CTL019 began in the summer of 2010 in patients with relapsed and refractory chronic lymphocytic leukemia (CLL), and are now underway for adult and pediatric patients with ALL, and patients with non-Hodgkin lymphoma and myeloma. Penn and Novartis are also investigating the next generation of CAR therapies, with trials for mesothelioma, ovarian, breast and pancreatic cancer now in early stages.

During the 2013 annual meeting of the American Society of Hematology, the Penn research team announced study results of the first 27 ALL patients(22 children and five adults) treated with CTL019: 89 percent of the patients had a complete response to the therapy. The first pediatric ALL patient to receive the Penn therapy celebrated the second anniversary of her cancer remission in May, and the first adult patient remains in remission one year after receiving the therapy.

The investigational treatment pioneered by the Penn team begins by removing patients' T cells via an apheresis process similar to blood donation, then genetically reprogramming them in Penn's Clinical Cell and Vaccine Production Facility. After being infused back into patients' bodies, these newly built "hunter" cells both multiply and attack, targeting tumor cells that express a protein called CD19. Tests reveal that the army of hunter cells can grow to more than 10,000 new cells for each single engineered cell patients receive.

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Penn's immunotherapy for leukemia receives FDA's Breakthrough Therapy designation

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PUBLIC RELEASE DATE:

6-Jul-2014

Contact: Jia Liu liujia@genomics.cn BGI Shenzhen

July 7, 2014, Shenzhen, China Researchers from BGI, working within the Metagenomics of the Human Intestinal Tract (MetaHIT) project, and in collaboration with other institutions around the world , have established the highest quality integrated gene set for the human gut microbiome to date- a close-to-complete catalogue of the microbes that reside inside us and massively outnumber our own cells. While the roughly 20,000 genes in the human genome have been available for over a decade, the gene catalog of the microbiome, our much larger "other genome", has to date been much more poorly understood and characterized.

The data released from this study should facilitate further research on the interactions between human and microbial genomes, and brings us closer to an understanding of how to maintain the microbial balance that keeps us healthy. The latest study was published online today in the journal Nature Biotechnology.

Each of our guts is colonized by more than 3 pounds of microorganisms that can break down toxins, manufacture vitamins and essential amino acids, and form a barrier against invaders. However, until now there has been a lack of comprehensive and uniformly processed database resources cataloging the human gut microbiota around the world, which has hindered our knowledge of the genetic and functional mechanism of human gut microbes.

In this study, researchers established a catalog of the human gut microbial genes by processing 249 newly sequenced samples and 1,018 published samples from MetaHIT, Human Microbiome Project (HMP) and a large diabetes study from China, as well as 511 sequenced genomes of gut-related bacteria and archaea. This expanded research is at least three times larger than the cohorts used for previous gene catalogs.

Based upon the catalog, researchers investigated the gut microbiota of healthy Chinese and Danish adults, and found the two cohorts greatly differed in nutrient metabolism as well as xenobiotic detoxification, which might be influenced by the differences in diet and environment. In addition, they observed enrichment in possible antibiotic resistance genes both at the population level (penicillin resistance in Danes and multidrug resistance in Chinese) and in the individual-specific genes, which highlighted the need for close monitoring of direct and indirect exposure to antibiotics.

Individual-specific genes contributed overwhelmingly to the increased total gene number in the integrated gene catalog and were overrepresented in genes responsible for the synthesis of cell wall components, DNA-related functions such as transposases, endonucleases and DNA methylases and encoding phage-related proteins. Such individual-specific genes likely reflect adaptation and might reflect the distinct combination of genetic, nutritional and medical factors in a host.

This nonredundant reference catalog of over 9.8 million genes is freely accessible through the website and the data have also been deposited in BGI's GigaScience Database, GigaDB and the SRA. It provides a much expanded and invaluable resource for global researchers to more deeply explore the geographical, genetic, temporal and physiological characteristics of gut microbes.

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BGI presents a high-quality gene catalog of human gut microbiome

Recommendation and review posted by Bethany Smith

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Newswise WASHINGTON, DC The American Society of Nephrology (ASN) and the ASN Foundation for Kidney Research will fund $2.8 million in original, meritorious research in 2014 to improve care for the more than 20 million Americans with kidney disease, and for kidney patients worldwide.

The ASN Foundation for Kidney Research helps prevent and cure kidney diseases through research and innovation. By adding 19 new research projects to a strong funding portfolio, the ASN Foundation for Kidney Research helps kidney professionals apply their talents to make a positive difference in the lives of millions, Chair of the Board of Directors Bruce A. Molitoris, MD, FASN, said.

The Ben J. Lipps Research Fellowship Program supports nephrology fellows who will advance the understanding of kidney biology and disease. The 2014 class includes:

Ben J. Lipps Research Fellows Akinwande A. Akinfolarin, MBBS, Brigham and Womens Hospital Pei-Lun Chu, MD, PhD, University of Virginia Daniel Fantus, MD, University of Pittsburgh Silvia Ferr, PhD, University of Texas Southwestern Michelle M. O'Shaughnessy, MD, MBChB, Stanford University Donald E. Wesson Research Fellow Nicholas Zwang, MD, Massachusetts General Hospital Joseph A. Carlucci Research Fellow Gene- Yuan Chang, MD, University of California San Francisco Sharon Anderson Research Fellow Moshe Shashar, MD, Boston Medical Center ASN Foundation for Kidney Research Fellows Javier A. Neyra, MD, University of Texas Southwestern Rabi Yacoub, MD, Ichan School of Medicine at Mount Sinai

The foundations Career Development Grants Program helps young investigators achieve independent research careers. Funding supports basic and clinical research in adult and pediatric nephrology, immunology and genetics directly relevant to human membranous nephropathy, glomerular diseases and idiopathic focal segmental glomerulosclerosis (FSGS). The 2014 recipients are:

Carl W. Gottschalk Research Scholar Grants Michael Butterworth, PhD, University of Pittsburgh Kirk N. Campbell, MD, Ichan School of Medicine at Mount Sinai Krzysztof Kiryluk, MD, Columbia University Timmy C. Lee, MD, FASN, University of Alabama at Birmingham Ethan Marin, MD, PhD, Yale School of Medicine Brian B. Ratliff, PhD, New York Medical College Matthias Wolf, MD, University of Texas Southwestern John Merrill Grant in Transplantation Martin H. Oberbarnscheidt, MD, PhD, University of Pittsburgh The NephCure Foundation-ASN Foundation for Kidney Research Grant Heon Yung Gee, MD, PhD, Boston Childrens Hospital

The 2014 grant recipients will propel advances in patient care and outcomes through basic, translational and clinical research, Dr. Molitoris said. ASN is delighted to support this research and foster the careers of the next generation of investigators who will advance care for kidney patients.

The ASN Foundation for Kidney Research was established in 2012 and funds the Career Development Grants Program, the Ben J. Lipps Research Fellowship Program, and the Student Scholar Grants Program. The Ben J. Lipps Research Fellowship Program is supported by educational donations provided by the American Renal Patient Care Foundation, Inc., Amgen, ASN, Baxter, and Fresenius Medical Care. For more information on the ASN Foundation for Kidney Research or its Grants Program, please visit http://www.asn-online.org/foundation or contact grants@asn-online.org, 202.618.6990.

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ASN Foundation for Kidney Research Funds $2.8 Million in Research Grants

Recommendation and review posted by Bethany Smith

Researcher Summer Goodson is used to getting snickers when she tells people shes studying male infertility.

Its expected, said Goodson, a post-doctoral research associate at the UNC Nutrition Research Institute in Kannapolis. Its a sensitive subject. But its a fascinating subject.

Goodson is looking into the hypothesis that the nutrient betaine, commonly found in foods such as beets and spinach, could improve sperm function in certain men.

Our hope is to see improvement in sperm function, Goodson said. It may have potential for (treating) male infertility, which is a growing problem in the United States.

But before we get to the details, let me tell you how she got to this point. Like a lot of things in science, serendipity played a role.

About six years ago, graduate student Amy Johnson was studying brain development in mice at UNC Chapel Hill. She looked at the effect of a particular gene that helps metabolize the nutrient choline into betaine in the body. She deleted that gene in the mice, expecting to discover effects on brain development. Instead, she wound up with male mice that were infertile.

Trying to figure out what was going on, Johnson contacted an expert in reproductive biology at UNC. Through her, she met Goodson, who was working on her doctorate in cell and developmental biology. They worked together, speculating on the reasons for the infertile mice and what further testing should be done.

Eventually, Johnson studied human males with a particular variant in the same gene that was missing in her research mice. The men had similar problems with sperm function. Their sperm motility was not as robust as that for men who didnt have the variant, Goodson said.

Fast forward to 2013. Johnson had moved to another research lab at UNC, and Goodson, who had finished her doctorate, was invited to the Kannapolis campus to speak about her work. While there, she happened to have a conversation with Dr. Steven Zeisel, the nutrition institutes director and Johnsons former supervisor.

Zeisel recalled Johnsons research with the infertile mice. He said she had noticed the mice had low levels of betaine, and when she put that nutritional supplement in their drinking water, their sperm function had improved. Zeisel suggested that giving betaine to human males with the genetic variant might improve their sperm function.

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Kannapolis research institute: Could nutrition affect male infertility?

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

7-Jul-2014

Contact: Kathryn Ruehle kruehle@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 7, 2014Cycling is a popular activity that offers clear health benefits, but there is an ongoing controversy about whether men who ride have a higher risk of urogenital disorders such as erectile dysfunction, infertility, or prostate cancer. The results of a study of nearly 5,300 male cyclists who participated in the Cycling for Health UK Study are presented in an article in Journal of Men's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Men's Health website at http://online.liebertpub.com/doi/full/10.1089/jomh.2014.0012 until August 7, 2014.

Milo Hollingworth, MBBS and Alice Harper, MBBS, University College London Medical School, and Mark Hamer, PhD, University College London, analyzed the risk for these three disorders in relation to the amount of weekly cycling time, ranging from <3.75 hours up to >8.5 hours per week. They report their findings in the article "An Observational Study of Erectile Dysfunction, Infertility and Prostate Cancer in Regular Cyclists: Cycling for Health UK Study."

"Physicians should discuss the potential risks and health benefits of cycling with their patients, and how it may impact their overall health," says Ajay Nehra, MD, Editor-in-Chief of Journal of Men's Health and Chair, Department of Urology, Director, Men's Health, Rush University Medical Center, Chicago, IL.

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About the Journal

Journal of Men's Health is the premier peer-reviewed journal published quarterly in print and online that covers all aspects of men's health across the lifespan. The Journal publishes cutting-edge advances in a wide range of diseases and conditions, including diagnostic procedures, therapeutic management strategies, and innovative clinical research in gender-based biology to ensure optimal patient care. The Journal addresses disparities in health and life expectancy between men and women; increased risk factors such as smoking, alcohol abuse, and obesity; higher prevalence of diseases such as heart disease and cancer; and health care in underserved and minority populations. Journal of Men's Health meets the critical imperative for improving the health of men around the globe and ensuring better patient outcomes. Tables of content and a sample issue can be viewed on the Journal of Men's Health website at http://www.liebertpub.com/jmh.

About the Societies

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Does cycling increase risk for erectile dysfunction, infertility, or prostate cancer?

Recommendation and review posted by Bethany Smith

07.07.2014 - (idw) Deutsches Zentrum fr Neurodegenerative Erkrankungen e.V. (DZNE)

People whose genome carries certain variations have a particularly high risk of developing Parkinson's disease. In particular, genetic variants in a gene referred to as GBA1 (glucocerebrosidase) are associated to an increased risk for Parkinsons. Researchers of the German Center for Neurodegenerative Diseases (DZNE) and the Hertie Institute for Clinical Brain Research have now pinpointed the consequences that genetic variations in GBA1 have on neurons consequences that had been largely undetermined to date. Using stem cells, they found that mutations affecting GBA1 impair calcium metabolism and the cells garbage disposal that normally digests and recycles defective substances including alpha-synuclein, the protein that accumulates in the brain of patients suffering from Parkinsons. This research shows a link between alterations in the GBA1 gene and cellular dysfunctions in Parkinsons disease for the first time. It also suggests potential targets for drugs and biomarkers that could be useful for diagnosis. The study is published in the journal Nature Communications.

In people suffering from Parkinsons, brain cells that are supposed to produce a neurotransmitter called dopamine, die off over time, making it difficult for these patients to control their movements. They may also suffer from insomnia and depression. And as the illness progresses, they may also develop dementia. To date, there is no cure for Parkinsons disease and the actual triggers of the death of neurons, i.e. of the so-called neurodegeneration, are still unknown. However, mutations of a certain gene referred to as GBA1, have been identified as a major risk factor. This gene contains the blueprint of an enzyme, called glucocerebrosidase, that is involved in the processing of certain lipids, explains DZNE researcher Michela Deleidi, who also works at the Hertie Institute for Clinical Brain Research. Alterations in this gene do not necessarily lead to Parkinsons. In fact, whereas people with mutations in both copies of the gene are affected by a metabolic disorder called Gauchers disease, both Gauchers disease patients and individuals with a mutation in just one copy of the gene are predisposed to develop Parkinsons.

Up to now, the consequences these mutations have on nerve cells were largely unexplored. Studies addressing the effect of these mutations in Parkinsons disease have not been performed yet, observes Deleidi. She therefore set out to elucidate the consequences of the genetic mutations. The study involved a team based in Tbingen including Professor Thomas Gasser, as well researchers in Italy and the United States.

Induced stem cells

Human nerve cells are not readily accessible and it is very difficult to cultivate such cells in the laboratory if they are obtained, for instance, through a surgical procedure. Hence, Deleidi and her colleagues chose a different approach: they took skin cells from Parkinsons and Gauchers patients harbouring mutations of the GBA1 gene and converted them into induced pluripotent stem cells by manipulating their genetic programme. Stem cells are unspecialized cells that have the potential to evolve into virtually any type of cell in the body. We differentiated stem cells into dopamine-producing neurons, the scientist explains. These cells contained the patients DNA and therefore also the GBA1 gene mutations. Next, we investigated the effects that these mutations had on the cell. We looked at those effects which make the cell susceptible to neurodegeneration. Other neurons that also originated from patients, served as controls. However, in these cells the GBA1 mutations had been corrected by genetic engineering.

Various dysfunctions

Potential biomarkers

These results were consistent with other findings based on patient studies. Enzymes showing unusual behavior in the cell cultures also revealed reduced activity in the spinal fluid of patients. This comprised not only glucocerebrosidase. The activity of other enzymes involved in the metabolism of lipids was also reduced. Measurement of the enzyme activity may provide important clues to disease. These enzymes may serve as biomarkers, in other words as indicators that could be helpful for the diagnosis of Parkinson's disease, Deleidi points out.

The researchers also found increased concentrations of the protein alpha-synuclein in the nerve cells they studied in laboratory. This protein does play a key role in Parkinsons disease because it aggregates into microscopically small lumps, which are suspected to damage nerve cells.

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Parkinsons disease: genetic defect triggers multiple damages in neurons

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

7-Jul-2014

Contact: Gina DiGravio gina.digravio@bmc.org 617-638-8480 Boston University Medical Center

Boston - Researchers from the Biomedical Genetics division of the Boston University School of Medicine (BUSM) are part of a five-university collaboration receiving a $12.6 million, four-year grant from the National Institute on Aging (NIA), part of the National Institutes of Health (NIH), to identify rare genetic variants that may either protect against, or contribute to Alzheimer's disease risk.

At BUSM, the Consortium for Alzheimer's Sequence Analysis (CASA) is led by Lindsay A. Farrer, PhD, Chief of Biomedical Genetics and professor of medicine, neurology, ophthalmology, epidemiology, and biostatistics, who is the principal investigator. Other Boston University investigators include Kathryn Lunetta, PhD, professor of biostatistics; Gyungah Jun, PhD, assistant professor of medicine, ophthalmology and biostatistics; and Richard Sherva, PhD, research assistant professor of medicine.

CASA investigators will analyze whole exome and whole genome sequence data generated during the first phase of the NIH Alzheimer's Disease Sequencing Program, an innovative collaboration that began in 2012 between NIA and the National Human Genome Research Institute (NHGRI), also part of NIH. They will analyze data from 6,000 volunteers with Alzheimer's disease and 5,000 older individuals who do not have the disease. In addition, they will study genomic data from 111 large families with multiple members who have Alzheimer's disease, mostly of Caucasian and Caribbean Hispanic descent to identify rare genetic variants.

"This is an exciting opportunity to apply new genomic technologies and computational methods to improve our understanding of the biological pathways underlying this disease," said Farrer. "The genes and pathways we identify as integral to the Alzheimer process may become novel therapeutic targets," he added.

Alzheimer's disease, a progressive neurodegenerative disorder, has become an epidemic that currently affects as many as five million people age 65 and older in the United States, with economic costs that are comparable to, if not greater than, caring for those of heart disease or cancer. Available drugs only marginally affect disease severity and progression. While there is no way to prevent this disease, the discovery of genetic risk factors for Alzheimer's is bringing researchers closer to learning how the genes work together and may help identify the most effective interventions.

This effort is critical to accomplishing the genetic research goals outlined in the National Plan to Address Alzheimer's Disease, first announced by the U.S. Department of Health and Human Services in May 2012 and updated annually. Developed under the National Alzheimer's Project Act, the plan provides a framework for a coordinated and concentrated effort in research, care, and services for Alzheimer's and related dementias. Its primary research goal is to prevent and effectively treat Alzheimer's disease by 2025.

With the current award, CASA joins the NHGRI Large-Scale Sequencing and Analysis Centers program, an NIH-supported consortium that provides large-scale sequence datasets and analysis to the biomedical community. CASA researchers will facilitate the analyses of all Alzheimer's Disease Sequencing Project (ADSP) and additional non-ADSP sequence data to detect protective and risk variants for Alzheimer's disease.

Original post:
Boston University researchers and collaborators receive $12.6 million NIH grant for AD

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

7-Jul-2014

Contact: Karen Kreeger karen.kreeger@uphs.upenn.edu 215-349-5658 University of Pennsylvania School of Medicine

PHILADELPHIA - Researchers from the Perelman School of Medicine at the University of Pennsylvania are part of a five-university collaboration receiving a $12.6 million, four-year grant from the National Institute on Aging (NIA), part of the National Institutes of Health (NIH), to identify rare genetic variants that may either protect against, or contribute to Alzheimer's disease risk.

At Penn, the Consortium for Alzheimer's Sequence Analysis (CASA) is led by Gerard D. Schellenberg, PhD, professor of Pathology and Laboratory Medicine. Other Penn investigators are Li-San Wang, PhD, professor of Pathology and Laboratory Medicine; Adam Naj, PhD, senior scholar, Center for Clinical Epidemiology and Biostatistics, and Nancy Zhang, PhD, professor of Statistics, Wharton School.

CASA investigators will analyze whole exome and whole genome sequence data generated during the first phase of the NIH Alzheimer's Disease Sequencing Program, an innovative collaboration that began in 2012 between NIA and the National Human Genome Research Institute (NHGRI), also part of NIH. They will analyze data from 6,000 volunteers with Alzheimer's disease and 5,000 older individuals who did not have the disease. In addition, they will study genomic data from 111 large families with multiple Alzheimer's disease members, mostly of Caucasian and Caribbean Hispanic descent to identify rare genetic variants.

"By identifying additional Alzheimer's-related genes, the CASA team aims to find new therapeutic targets that will reduce the economic and human burden caused by this disease," said Schellenberg. "This is an exciting opportunity to apply new technologies to improve our understanding of the biological pathways underlying this devastating disease."

Alzheimer's disease, a progressive neurodegenerative disorder, has become an epidemic that currently affects as many as five million people age 65 and older in the United States, with economic costs that are comparable to, if not greater than, caring for those of heart disease or cancer. Available drugs only marginally affect disease severity and progression. While there is no way to prevent this disease, the discovery of genetic risk factors for Alzheimer's is bringing researchers closer to learning how the genes work together and may help identify the most effective interventions.

This effort is critical to accomplishing the genetic research goals outlined in the National Plan to Address Alzheimer's Disease, first announced by the U.S. Department of Health and Human Services in May 2012 and updated annually. Developed under the National Alzheimer's Project Act, the plan provides a framework for a coordinated and concentrated effort in research, care, and services for Alzheimer's and related dementias. Its primary research goal is to prevent and effectively treat Alzheimer's disease by 2025.

With the current award, CASA joins the NHGRI Large-Scale Sequencing and Analysis Centers program, an NIH-supported consortium that provides large-scale sequence datasets and analysis to the biomedical community. CASA researchers will facilitate the analyses of all Alzheimer's Disease Sequencing Project (ADSP) and additional non-ADSP sequence data to detect protective and risk variants for Alzheimer disease.

More here:
$12.6 million NIH grant to study genetics of Alzheimer's disease

Recommendation and review posted by Bethany Smith

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Newswise PHILADELPHIA - Researchers from the Perelman School of Medicine at the University of Pennsylvania are part of a five-university collaboration receiving a $12.6 million, four-year grant from the National Institute on Aging (NIA), part of the National Institutes of Health (NIH), to identify rare genetic variants that may either protect against, or contribute to Alzheimers disease risk.

At Penn, the Consortium for Alzheimers Sequence Analysis (CASA) is led by Gerard D. Schellenberg, PhD, professor of Pathology and Laboratory Medicine. Other Penn investigators are Li-San Wang, PhD, professor of Pathology and Laboratory Medicine; Adam Naj, PhD, senior scholar, Center for Clinical Epidemiology and Biostatistics, and Nancy Zhang, PhD, professor of Statistics, Wharton School.

CASA investigators will analyze whole exome and whole genome sequence data generated during the first phase of the NIH Alzheimers Disease Sequencing Program, an innovative collaboration that began in 2012 between NIA and the National Human Genome Research Institute (NHGRI), also part of NIH. They will analyze data from 6,000 volunteers with Alzheimers disease and 5,000 older individuals who did not have the disease. In addition, they will study genomic data from 111 large families with multiple Alzheimers disease members, mostly of Caucasian and Caribbean Hispanic descent to identify rare genetic variants.

By identifying additional Alzheimers-related genes, the CASA team aims to find new therapeutic targets that will reduce the economic and human burden caused by this disease, said Schellenberg. This is an exciting opportunity to apply new technologies to improve our understanding of the biological pathways underlying this devastating disease.

Alzheimers disease, a progressive neurodegenerative disorder, has become an epidemic that currently affects as many as five million people age 65 and older in the United States, with economic costs that are comparable to, if not greater than, caring for those of heart disease or cancer. Available drugs only marginally affect disease severity and progression. While there is no way to prevent this disease, the discovery of genetic risk factors for Alzheimers is bringing researchers closer to learning how the genes work together and may help identify the most effective interventions.

This effort is critical to accomplishing the genetic research goals outlined in the National Plan to Address Alzheimers Disease, first announced by the U.S. Department of Health and Human Services in May 2012 and updated annually. Developed under the National Alzheimers Project Act, the plan provides a framework for a coordinated and concentrated effort in research, care, and services for Alzheimers and related dementias. Its primary research goal is to prevent and effectively treat Alzheimers disease by 2025.

With the current award, CASA joins the NHGRI Large-Scale Sequencing and Analysis Centers program, an NIH-supported consortium that provides large-scale sequence datasets and analysis to the biomedical community. CASA researchers will facilitate the analyses of all Alzheimers Disease Sequencing Project (ADSP) and additional non-ADSP sequence data to detect protective and risk variants for Alzheimer disease.

We are delighted to support the important research being accomplished under this broad-based, collaborative effort. A team effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating disease and to the shared goal of finding targets for effective interventions, said NIH Director Francis Collins, MD, PhD.

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Penn Medicine Researchers and Collaborators Receive $12.6 Million NIH Grant to Study Genetics of Alzheimer's Disease

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Newswise Researchers from Case Western Reserve University School of Medicine are part of a five-university collaboration receiving a $12.6 million, four-year grant from the National Institute on Aging (NIA), part of the National Institutes of Health (NIH), to identify rare genetic variants that may either protect against, or contribute to Alzheimers disease risk.

At Case Western Reserve School of Medicine, the Consortium for Alzheimers Sequence Analysis (CASA) is led by Jonathan Haines, PhD, chair of the department of epidemiology & biostatistics and director of the Institute for Computational Biology. Fellow Case Western Reserve investigator is William Bush, PhD, assistant professor of epidemiology and biostatistics.

CASA investigators will analyze whole exome and whole genome sequence data generated during the first phase of the NIH Alzheimers Disease Sequencing Program, an innovative collaboration that began in 2012 between NIA and the National Human Genome Research Institute (NHGRI), also part of NIH. They will analyze data from 6,000 volunteers with Alzheimers disease and 5,000 older individuals who do not have the disease. In addition, they will study genomic data from 111 large families with multiple members who have Alzheimers disease, mostly of Caucasian and Caribbean Hispanic descent to identify rare genetic variants.

Illuminating the hidden genetic architecture of Alzheimers disease will help identify therapeutic targets, and reduce the economic and personal burdens this devastating disease inflicts, Haines said. Combining the latest in DNA sequencing technologies and computational methods represents an exciting approach toward solving the riddle of this disease.

Alzheimers disease, a progressive neurodegenerative disorder, has become an epidemic that currently affects as many as five million people age 65 and older in the United States, with economic costs that are comparable to, if not greater than, caring for those of heart disease or cancer. Available drugs only marginally affect disease severity and progression. While there is no way to prevent this disease, the discovery of genetic risk factors for Alzheimers is bringing researchers closer to learning how the genes work together and may help identify the most effective interventions.

This effort is critical to accomplishing the genetic research goals outlined in the National Plan to Address Alzheimers Disease, first announced by the U.S. Department of Health and Human Services in May 2012 and updated annually. Developed under the National Alzheimers Project Act, the plan provides a framework for a coordinated and concentrated effort in research, care, and services for Alzheimers and related dementias. Its primary research goal is to prevent and effectively treat Alzheimers disease by 2025.

With the current award, CASA joins the NHGRI Large-Scale Sequencing and Analysis Centers program, an NIH-supported consortium that provides large-scale sequence datasets and analysis to the biomedical community. CASA researchers will facilitate the analyses of all Alzheimers Disease Sequencing Project (ADSP) and additional non-ADSP sequence data to detect protective and risk variants for Alzheimers disease.

We are delighted to support the important research being accomplished under this broad-based, collaborative effort. A team effort is vital to advancing a deeper understanding of the genetic variants involved in this complex and devastating disease and to the shared goal of finding targets for effective interventions, said NIH Director Francis Collins, MD, PhD.

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Case Western Reserve University Researchers and Collaborators Receive $12.6 Million NIH Grant to Study Genetics of ...

Recommendation and review posted by Bethany Smith

July 7, 2014

Image Caption: The newly developed antibody brings hope for dogs. Credit: Michael Bernkopf / Vetmeduni Vienna

University of Veterinary Medicine Vienna

Nearly every second dog develops cancer from the age of ten years onward. A few therapies derived from human medicine are available for dogs. A very successful form of therapy by which antibodies inhibit tumor growth has not been available for animals so far. Scientists at the inter-university Messerli Research Institute of the Vetmeduni Vienna, the Medical University of Vienna, and the University of Vienna have developed, for the first time, antibodies to treat cancer in dogs. The scientists published their research data in the journal Molecular Cancer Therapeutics.

As in humans, cancers in dogs have complex causes. The interaction of the environment, food, and genetic disposition are the most well known factors. Today nearly all methods of human medicine are basically available for dogs with cancer, but this was not true of cancer immunotherapy so far.

So-called cancer immunotherapy which is the treatment of tumors by the use of antibodies has been established and used very successfully in human medicine for about 20 years. Since cancer cells bear very specific antigens on the surface, the corresponding antibodies bind to these molecules and thus inhibit tumor growth. The mechanism that becomes effective is a destructive signal sent by the antibody to the inside of the cancer cell and initiates its death. In a second mechanism, the immune system of the patient also destroys the marked tumor in a more efficient way.

The target is nearly identical in humans and dogs

Josef Singer and Judith Fazekas, both lead authors of the study, discovered that a receptor frequently found on human tumor cells (epidermal growth factor receptor or EGFR) is nearly 100 percent identical with the EGF receptor in dogs. In human medicine EGFR is frequently used as the target of cancer immunotherapy because many cancer cells bear this receptor on their surface. The so-called anti-EGFR antibody binds to cancer cells and thus triggers the destruction of the cells. Due to the high similarity of the receptor in humans and dogs, this type of therapy should work well in dogs too, the scientists say. The binding site of the antibody to EGFR in man and dogs differs only in respect of four amino acids.

Antibody trimmed to dog

To ensure best possible binding of the antibody to cancer cells in dogs, the human antibody had to be trimmed to dog in the laboratory. In human medicine this process is known as the humanization of an antibody. The antibody originally produced in the mouse has to be adjusted to the species for which it is used. Singer and Fazekas replaced the corresponding elements in the humanized antibody with elements from the dog. In experiments on dog cancer cells in the laboratory it was found that the newly developed antibodies did, in fact, bind to canine cancer cells with greater specificity.

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Scientists Develop First Cancer Immunotherapy For Dogs

Recommendation and review posted by Bethany Smith