Michelle Catalano had no reason to think her fourth baby wouldn't be born as healthy as her other three. But because the Eastchester resident was 36 - a year into the territory obstetricians ominously describe as "advanced maternal age" - she was given the option of using a new technology to test whether her baby was developing free of genetic defects that could signal trouble.
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New genetic test for fetus can give parents more questions than answers
ScienceDaily (Oct. 31, 2012) Completing the second phase of the 1000 Genomes Project, a multinational team of scientists reports that they have sampled a total of 1092 individuals from 14 different populations and sequenced their full genomes. The researchers described the feat as a collegial effort to equip biologists and physicians with information that can be used to understand the normal range of human genetic variants so that a patient's disease genome can be interpreted in a broader context.
A report on the research, published online in Nature on Nov. 1 represents the culmination of five years of work, says Aravinda Chakravarti, Ph.D., professor of medicine and pediatrics and a member of the Institute of Genetic Medicine at the Johns Hopkins School of Medicine. Chakravarti helped to design the population genetics sampling plan.
"The DNA donors in the study were not known to have any diseases, so the study gives us the genomic background we need for understanding which genetic variations are 'within the normal range,'" Chakravarti says. "With this tool, scientists now have a standard with which they can compare the genome of someone with diabetes, for example." That in turn, Chakravarti says, will increase opportunities for understanding the disease and creating targeted, individualized treatment.
The selection of the 14 populations sampled was based on their ancient migratory history and their genetic relationship to the other populations studied. Within each population, healthy, unrelated donors were randomly chosen for blood draws. The blood samples were first transformed into cell lines that can be stored and grown indefinitely so that they will always be available for future studies. After cell lines were grown, the DNA was sequenced and added to a public database.
The first human genome to be sequenced, published in 2003, made clear that as much as 98.5 percent of human genetic material does not encode proteins, as had been thought. Scientists now know the role of some of the non-protein-coding regions and, although much of the genome remains a mystery, there is reason to suspect that at least some of it plays a part in the variability seen in disease susceptibility and prevalence.
"The 1000 Genomes Project started at the beginning, with the whole genome and with no bias in the search for disease-related variants toward protein-coding genes," Chakravarti explains. "Regulatory sequences and sequences we still don't understand were also catalogued, so this information widens the areas of the genome we can search when looking for disease-causing variants." Most of the genetics research done to date has begun with a disease or a protein that is known to be malfunctioning, followed by a hunt for the responsible genetic variants.
The genetic variations found in the populations analyzed were categorized by how frequently they appeared in the individuals tested. Variants seen in more than five percent of the samples were classified as common variants, while low-frequency variants appeared in 0.5 to five percent of individuals and rare variants in less than 0.5 percent of the samples.
The 14 populations sampled were divided into four ancestry groups: European, African, East Asian and American. As expected, most of the common variants had already been identified in previous studies, and their frequencies varied little between ancestry groups.
By contrast, 58 percent of the low-frequency variants and 87 percent of the rare variants were described for the first time in this study. Rare variants were sometimes twice as likely to be found within a particular population as in that population's broader ancestry group. Different populations also showed different numbers of rare variants, with the Spanish, Finnish and African-American populations carrying the greatest number of them.
Amazingly, Chakravarti says, the researchers found that among rare variants, the healthy people in their study possessed as many as 130 to 400 protein-altering variants; 10 to 20 variants that destroy the function of the proteins they encode; two to five variants that damage protein function; and one or two variants associated with cancer. The implication is that all healthy people everywhere carry similar numbers of rare, deleterious variants.
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1092 human genomes sequenced to determine standard range of human genetic variation
03: Genetic Medicine (MRes): Bill Newman: why choose this course?
Dr Bill Newman explains how this Genetic Medicine (MRes) in a hospital-based environment at Manchester offers exciting research possibilities for its students.From:ManchesterMedicineViews:35 0ratingsTime:00:51More inEducation
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03: Genetic Medicine (MRes): Bill Newman: why choose this course? - Video
05: Genetic Medicine (MRes): Bill Newman: Manchester population genetics
Dr Bill Newman on the Clinical Genetics Service in Manchester. The patients they see in the hospital have a range of inherited conditions, which makes for good opportunities for students to get involved with cutting-edge research projects.From:ManchesterMedicineViews:79 0ratingsTime:01:29More inEducation
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05: Genetic Medicine (MRes): Bill Newman: Manchester population genetics - Video
Genetic Medicine (MRes): Bill Newman: Career prospects
Dr Bill Newman on companies investing in people with strong genetics training. MRes training in genetic medicine could be a platform to bolster a student #39;s career prospects.From:ManchesterMedicineViews:114 0ratingsTime:00:48More inEducation
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Genetic Medicine (MRes): Bill Newman: Career prospects - Video
The Health Quarter
n this edition of the Health Quarter: new genetic medicine trials target muscular dystrophy; and Australia #39;s organ donation trends for 2011.From:NewsOnABCViews:8 0ratingsTime:13:01More inNews Politics
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Hope for Duchenne sufferers
Researchers have developed a genetic medicine which could help sufferers of Duchenne muscular dystrophy.From:NewsOnABCViews:232 2ratingsTime:06:11More inNews Politics
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Dr. David Valle Speaks About Evolutionary Medicine
In this video, Dr. David Valle, Professor and Director of the Institute of Genetic Medicine at Johns Hopkins University School of Medicine, discusses the advancement of evolutionary medicine and also speaks about the Johns Hopkins Individualized Medicine Program. This video was taken at CBI #39;s 4th Annual Forum for Payers on Personalized Medicine conference in Washington, DC on March 13, 2012.From:AJMCtvViews:47 0ratingsTime:02:38More inScience Technology
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Advancing Health Care: Personalized Genetic Medicine
The Partners HealthCare Center for Personalized Genetic Medicine (PCPGM) was launched in recognition of the excitement of the Human Genome Project and as a commitment to the importance that genetic and genomic knowledge would play in human health.From:PartnersHealthCareViews:57 0ratingsTime:03:28More inScience Technology
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Advancing Health Care: Personalized Genetic Medicine - Video
Implementing of Genetic Medicine Programs: Laboratories - Debra Leonard
Genomic Medicine Centers Meeting III May 3-4, 2012 More: http://www.genome.govFrom:GenomeTVViews:106 0ratingsTime:27:24More inScience Technology
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Implementing of Genetic Medicine Programs: Laboratories - Debra Leonard - Video
Deadly Medicine Panel Discussion: Meanings and Implications of Nazism and Eugenics
On March 29, 2012, a distinguished panel of speakers shared personal experiences and scholarly knowledge of eugenics in Nazi Germany at the University of Michigan. This panel provided an opportunity for the speakers to reflect on the past, and discuss the implications of the exhibition Deadly Medicine to memory, medical practice, and genetic medicine today. Sabine Hildebrandt, MD, moderated the discussion of the panelists: Martin Lowenberg; Emanuel Tanay, MD; Geoff Eley, Ph.D; and Sharon LR Kardia, Ph.D. The Deadly Medicine exhibit installation and related events were generously cosponsored by the University of Michigan #39;s Medical School Dean #39;s Office, Center for Bioethics and Social Sciences in Medicine, Center for International and Comparative Studies, Institute for the Humanities, Department of Medical Education: Division of Anatomical Sciences, History Department, Jean Samuel Frankel Center for Judaic Studies, Germanic Languages and Literatures, Program in Science, Technology and Society, Genetic Counseling Program, and Department of Human Genetics. Music adapted from: "Pond" by Shimoda ccmixter.org is licensed under a Creative Commons license: creativecommons.org Except where otherwise noted, this work is subject to a Creative Commons Attribution 3.0 license. Details and exceptions (www.lib.umich.eduFrom:umlibraryViews:106 1ratingsTime:01:02:58More inEducation
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Deadly Medicine Panel Discussion: Meanings and Implications of Nazism and Eugenics - Video
Cancer Trends Plenary Session (part II) -- Bio-IT World Expo 2012
A plenary roundtable on cancer research trends recorded on April 26, 2012, at the Bio-IT World Expo in Boston. Moderated by Kevin Davies (Bio-IT World chief editor), the guests are (from left to right): John Quackenbush, Professor, Biostatistics and Computational Biology, Dana-Farber Cancer Institute; Julian Adams, President, R D, Infinity Pharmaceuticals, Inc.; Jose Baselga, Chief, Division of Hematology/Oncology, Massachusetts General Hospital, Boston; and Sir John Burn, Professor of Clinical Genetics, Institute of Genetic Medicine, Newcastle University, UK; Medical Director, QuantuMDx LtdFrom:CambridgeHealthtechViews:61 0ratingsTime:43:04More inScience Technology
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Cancer Trends Plenary Session (part II) -- Bio-IT World Expo 2012 - Video
Targeting genetic medicine
Tue, Jun 19: A new centre at SickKids is bringing together the brightest minds in patient care, education, policy and research with the goal of one day making individualized treatment a standard of care. Beatrice Politi reports.From:GlobalTorontoViews:17 0ratingsTime:02:15More inNews Politics
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LA Society for the Arts in Healthcare Event
Coverage of a networking party at the home of Lynn and Dr. Ed Crandall involving the USC Institute for Genetic Medicine Art Gallery which is a member of the Society for the Arts in HealthcareFrom:harrisfromparisViews:133 0ratingsTime:03:37More inEducation
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Yolantha Harrison-Pace: Author, Poet, Playwright
Yolantha Harrison-Pace, Mama Haiti, Haiti, Visual Artist, Poet, Performance Artist, Author, Playwright, Teaching Artist. (Please read artist #39;s statement below.) Artist #39;s Statement: INTERNATIONAL LITERARY ARTIST AND PERFORMANCE WRITER Branded as one of America #39;s Top 100 African American Literary Divas besides such greats as Maya Angelou, Niki Giovanni, Gwendolyn Brooks and Oprah Winfrey, Yolantha Harrison-Pace speaks and shares candidly on how she did it, how she does it and how she insures that she will continue to do it: WRITE! WRITE!! WRITE!!! Guest Newspaper Columnist for the Kentucky Advocate Messenger, Adjunct Reporter and Art Critic for the University of Southern California Institute of Genetic Medicine Arts Museum, co-founder of Germany #39;s Arts Over The Ocean Artists Collaboration, award winning author, and playwright, Pace storms full force into the fray on the war against "writer #39;s block". Her writing workbook, I CAIN #39;T FIND NO PUNKINS, her writing workshops and performance readings provide inspiration, strategies and tools for the novice as well as seasoned literary artist to always be able to craft and hone his or her writing skills.From:FinepointTVViews:6 0ratingsTime:07:51More inPeople Blogs
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USC Institute for Genetic Medicine Art Show
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Dolan Lecture Series 2000 - Ronald G. Crystal, MD
Therapy for the New Millennium: Using Genetic Medicine to Regenerate Diseased OrgansFrom:DolanLectureSeriesViews:6 0ratingsTime:01:00:37More inPeople Blogs
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Implementation of Genetic Medicine Programs: Laboratories - Stephen Chanok
June 28-29, 2012 - Sequencing in Cohort Studies and Large Sample Collections More: http://www.genome.govFrom:GenomeTVViews:29 1ratingsTime:20:54More inScience Technology
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Implementation of Genetic Medicine Programs: Laboratories - Stephen Chanok - Video
Shane McKee: Showreel 1
Never let Shane out in Israel with an iPhone. This is a showreel I put together for PastPreservers, purely from footage hand-shot with an iPhone, and some photos audio patched in. I #39;m a Clinical Geneticist (doctor in Genetic Medicine), so that #39;s the area I can claim proper expertise in, but my other science communication interests include: the Middle East (ancient and modern), Egyptology, General Science, the Religion-Science debate, Human Origins and lots more.From:Shane McKeeViews:47 1ratingsTime:04:54More inEducation
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3D Printing: The Future of Manufacturing
Alex Daley of Casey Research discusses the 3D printing revolution and its impact on the future of manufacturing. He also sheds light on curing cancer, biological medicine, genetic medicine, digital content, computer technology, electronic devices, popular mechanics, the human genome, globalization, monoclonal antibodies, biotechnology and much more. Michael Nuschke of Retirement Singularity discusses the technology and science behind 3D printing 3D manufacturing and how this will impact investors. ****************************************** Original source: Alex Daley Tech Talk -- Casey Research: http://www.youtube.com My blog = http://www.RetirementSingularity.com Facebook = httpFrom:RetireSingularityViews:301 9ratingsTime:09:25More inEducation
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