Arrowhead Publishes First Ever Cholesterol-siRNA Mediated Gene Knockdown in Primates and Novel DPC Co-Injection Strategy
PASADENA, Calif.--(BUSINESS WIRE)--
Arrowhead Research Corporation (ARWR), a targeted therapeutics company, today announced the publication of data demonstrating that high level target gene knockdown with low doses of cholesterol-siRNA is possible in non-human primates using the companys Dynamic Polyconjugate (DPC) delivery system and a novel co-injection strategy. This new delivery approach dramatically increases the efficacy of cholesterol-siRNA and, together with the co-injection strategy, simplifies the manufacturing process to enable a commercially scalable delivery vehicle for RNAi therapeutics. The company is using this strategy and a next generation DPC polymer in ARC-520, its hepatitis B clinical candidate. The paper titled, Co-injection of a targeted, reversibly masked endosomolytic polymer dramatically improves the efficacy of cholesterol-conjugated siRNAs in vivo, was published online ahead of print in the journal Nucleic Acid Therapeutics to be featured in the December issue (Nucleic Acid Therapeutics. December 2012, 22(6): 380-390).
The publication describes an important advance in DPC technology. Specifically, the requirement for siRNA attachment to the DPC polymer is replaced by conjugating a cholesterol to the siRNA and co-injecting it with the DPC polymer. Uptake of the DPC in the target cells and subsequent unmasking of the polymers endosomolytic properties enables release of the cholesterol-siRNA from the endosome to the cells cytoplasm where it can elicit RNAi. This delivery strategy produces over 500-fold increase in efficiency in mice compared to injection of cholesterol-siRNA alone and is the first delivery system to demonstrate cholesterol-siRNA mediated gene knockdown in monkeys. Long duration silencing was observed after administration of a single dose with maximal protein reduction sustained until day 30. Further, unlike other siRNA delivery platforms, the co-injection method does not require complex formation of the siRNA to the delivery vehicle, which eliminates potentially complicated and costly manufacturing steps. This represents a seminal advance in the siRNA delivery field.
The main drawback of cholesterol-conjugated siRNAs is that their delivery is highly inefficient, and extraordinarily high doses would be needed to achieve even minimal amounts of target gene silencing, said Bruce Given, MD, Arrowheads COO and Head of R&D. Our strategy and the DPC platform enable much higher levels of gene silencing at dramatically lower doses of cholesterol-siRNA. Moreover, the ability to simply co-inject the cholesterol-siRNA with the DPC polymer without having to attach them together simplifies manufacturing and has facilitated our use of next generation polymers. This co-injection strategy and a next generation polymer are being used in our HBV clinical candidate, ARC-520.
About Arrowhead Research Corporation
Arrowhead Research Corporation is a clinical stage targeted therapeutics company with development programs in oncology, obesity, and chronic hepatitis B virus infection. The company is leveraging its platform technologies to design and develop peptide-drug conjugates (PDCs) that specifically home to cell types of interest while sparing off-target tissues, create targeted drugs based on the gene silencing RNA interference (RNAi) mechanism, and work with partners to create improved versions of traditional small molecule drugs.
For more information please visit http://www.arrowheadresearch.com, or follow us on Twitter @ArrowRes. To be added to the Company's email list to receive news directly, please send an email to ir@arrowres.com
Safe Harbor Statement under the Private Securities Litigation Reform Act:
This news release contains forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. These statements are based upon our current expectations and speak only as of the date hereof. Our actual results may differ materially and adversely from those expressed in any forward-looking statements as a result of various factors and uncertainties, including our ability to finance our operations, the future success of our scientific studies, our ability to successfully develop drug candidates, the timing for starting and completing clinical trials, rapid technological change in our markets, and the enforcement of our intellectual property rights. Arrowhead Research Corporation's most recent Annual Report on Form 10-K and subsequent Quarterly Reports on Form 10-Q discuss some of the important risk factors that may affect our business, results of operations and financial condition. We assume no obligation to update or revise forward-looking statements to reflect new events or circumstances.
Excerpt from:
Arrowhead Publishes First Ever Cholesterol-siRNA Mediated Gene Knockdown in Primates and Novel DPC Co-Injection Strategy
Recommendation and review posted by Bethany Smith
European Descendants Carry Brunt of New Gene Mutations
Almost three quarters of gene mutations occurred within the last 5 to 10 millennia of humans 200,000 years existence, and those of European descent have most of the harmful ones, an analysis of people in the U.S. showed.
About 14 percent of mutations scientists identified were found to be harmful, according to a gene study of 6,500 Americans published today in the journal Nature. About 86 percent of those variants arose in people with European heritage in the last 5,000 years, the research found.
The exploding population growth of humans enabled DNA errors to occur more rapidly, said study author Joshua Akey, an associate professor of genome sciences at the University of Washington in Seattle. People with European ancestry have most of the new deleterious mutations because the population boom among Europeans was more recent and natural selection hasnt yet removed them, he said.
Theres an enormous amount of recently arisen, rare mutations thats directly attributable to the explosive population growth over the last two to four generations, said Akey in a telephone interview.
The worlds population was 6.9 billion in 2010, more than doubling from 2.5 billion in 1950, according to United Nations data. The population boom may mean that unusual combinations may affect more people, numerically, while remaining rare relative to the world population, Akey said.
More people allow for rare variations to come up more often and for new mutations to appear, Akey said. The growing population also makes it more likely that new mutations will be introduced, such as those linked to autism, leading to an increase in certain diseases.
The findings are also consistent with the out of Africa hypothesis of human evolution, which holds that modern humans emerged in Africa before spreading across the rest of the world, according to the researchers. Events such as the Black Death, a plague which killed about a third of the people in Europe, could be seen through their effects on the genome, said Eric Topol, a professor of translational genomics at the Scripps Research Institute in La Jolla, California.
Todays data may provide other hints of how the human population expanded, much like tree rings can provide records of the past weather, Topol said.
This helps us understand bottlenecks and how humans evolved, Topol said. He wasnt involved in the study. Now when scientists see new genes or mutations, they can also begin to ask when did they crop up, he said.
Whats more, the data may help doctors identify the genetic basis of disease, he said. Researchers typically look for frequent variants in common ailments, such as diabetes and heart disease. Todays results suggest that rare variations occur so often that they contribute more than once thought to common illnesses.
Go here to read the rest:
European Descendants Carry Brunt of New Gene Mutations
Recommendation and review posted by Bethany Smith
Bioliberation and Biothreats – The Future of Genetic Engineering "Super Mouse" – Video
Bioliberation and Biothreats - The Future of Genetic Engineering "Super Mouse"
From:AustralianRealistViews:0 0ratingsTime:05:27More inPeople Blogs
View post:
Bioliberation and Biothreats - The Future of Genetic Engineering "Super Mouse" - Video
Recommendation and review posted by Bethany Smith
Zecharia Sitchin – The 12th Planet – Video
Zecharia Sitchin - The 12th Planet
Zecharia Sitchin (Russian: #1047; #1072; #1093; #1072; #769; #1088; #1080; #1103; #1057; #1080; #769; #1090; #1095; #1080; #1085; Azerbaijani: Zaxariya Sitçin) (July 11, 1920 -- October 9, 2010) was an Azerbaijani-born American author of books proposing an explanation for human origins involving ancient astronauts. Sitchin attributes the creation of the ancient Sumerian culture to the Anunnaki, which he states was a race of extraterrestrials from a planet beyond Neptune called Nibiru. He believed this hypothetical planet of Nibiru to be in an elongated, elliptical orbit in the Earth #39;s own Solar System, asserting that Sumerian mythology reflects this view. Sitchin #39;s books have sold millions of copies worldwide and have been translated into more than 25 languages. Similarly to earlier authors such as Immanuel Velikovsky and Erich von Däniken, Sitchin advocated hypotheses in which extraterrestrial events supposedly played a significant role in ancient human history. According to Sitchin #39;s interpretation of Mesopotamian iconography and symbology, outlined in his 1976 book The 12th Planet and its sequels, there is an undiscovered planet beyond Neptune that follows a long, elliptical orbit, reaching the inner solar system roughly every 3600 years. This planet is called Nibiru (although Jupiter was the planet associated with the god Marduk in Babylonian cosmology). According to Sitchin, Nibiru (whose name was replaced with MARDUK in original legends by the Babylonian ruler of the same name in an attempt to co-opt the creation for himself, leading to some ...From:DiscloseTruthTVViews:212 11ratingsTime:32:53More inEducation
Go here to see the original:
Zecharia Sitchin - The 12th Planet - Video
Recommendation and review posted by Bethany Smith
PSA : Genetic Engineering by Christina Bachis – Video
PSA : Genetic Engineering by Christina Bachis
Project for Ms. Bolton #39;s class. Enjoy.From:bachis101Views:8 0ratingsTime:02:42More inMusic
Read more here:
PSA : Genetic Engineering by Christina Bachis - Video
Recommendation and review posted by Bethany Smith
Genetically Modified Fish – Wiki Article – Video
Genetically Modified Fish - Wiki Article
Genetically modified fish (GM fish) are genetically modified organisms. The DNA of the fish has been modified using genetic engineering techniques. In most cases the aim is to introduce a new trait t... Genetically Modified Fish - Wiki Article - wikiplays.org Original @ http All Information Derived from Wikipedia using Creative Commons License: en.wikipedia.org Author: Image URL: en.wikipedia.org ( Lic. under the GNU Free Doc. Lic. ) Author: Niall Crotty Image URL: en.wikipedia.org ( Creative Commons ASA 3.0 ) Author: Azul Image URL: en.wikipedia.org ( Copyright holder allows use with attribution. )From:WikiPlaysViews:0 0ratingsTime:10:49More inEducation
More here:
Genetically Modified Fish - Wiki Article - Video
Recommendation and review posted by Bethany Smith
Golden Rice – Wiki Article – Video
Golden Rice - Wiki Article
Golden rice is a variety of Oryza sativa rice produced through genetic engineering to biosynthesize beta-carotene, a precursor of vitamin A, in the edible parts of rice. The research was conducted wi... Golden Rice - Wiki Article - wikiplays.org Original @ http All Information Derived from Wikipedia using Creative Commons License: en.wikipedia.org Author: International Rice Research Institute (IRRI) Image URL: en.wikipedia.org ( Creative Commons ASA 3.0 ) Author: Carotenoid.jpg Image URL: en.wikipedia.org ( Creative Commons ASA 3.0 ) Author: Unknown Image URL: en.wikipedia.org ( This work is in the Public Domain. ) Author: Unknown Image URL: en.wikipedia.org ( This work is in the Public Domain. )From:WikiPlaysViews:0 0ratingsTime:19:22More inEducation
Read this article:
Golden Rice - Wiki Article - Video
Recommendation and review posted by Bethany Smith
UK, German and US scientists decipher complex genetic code to create new tools for breeders and researchers across the …
ScienceDaily (Nov. 28, 2012) Scientists have unlocked key components of the genetic code of one of the world's most important crops. The first analysis of the complex and exceptionally large bread wheat genome, published today in Nature, is a major breakthrough in breeding wheat varieties that are more productive and better able to cope with disease, drought and other stresses that cause crop losses.
The identification of around 96,000 wheat genes, and insights into the links between them, lays strong foundations for accelerating wheat improvement through advanced molecular breeding and genetic engineering. The research contributes to directly improving food security by facilitating new approaches to wheat crop improvement that will accelerate the production of new wheat varieties and stimulate new research. The analysis comes just two years after UK researchers finished generating the sequence.
The project was led by Neil Hall, Mike Bevan, Keith Edwards, Klaus Mayer, from the University of Liverpool, the John Innes Centre, the University of Bristol, and the Institute of Bioinformatics and Systems Biology, Helmholtz-Zentrum, Munich, respectively, and Anthony Hall at the University of Liverpool. W. Richard McCombie at Cold Spring Harbor Laboratory, and Jan Dvorak at the Univerisity of California, Davis, led the US contribution to the project.
The team sifted through vast amounts of DNA sequence data, translating the sequence into something that scientists and plant breeders can use effectively. All of their data and analyses were freely available to users world-wide.
Professor Neil Hall said: "The raw data of the wheat genome is like having tens of billions of scrabble letters; you know which letters are present, and their quantities, but they need to be assembled on the board in the right sequence before you can spell out their order into genes."
"We've identified about 96,000 genes and placed them in an approximate order. This has made a strong foundation for both further refinement of the genome and for identifying useful genetic variation in genes that scientists and breeders can use for crop improvement."
Minister for Universities and Science David Willetts said: "This groundbreaking research is testament to the excellence of Britain's science base and demonstrates the capability we want to build on through the agri-tech strategy currently being developed.
"The findings will help us feed a growing global population by speeding up the development of new varieties of wheat able to cope with the challenges faced by farmers worldwide."
Wheat has a global output of over 680million tonnes; bread wheat (Triticum aestivum) provides over a fifth of the calories that we eat. As the global population and the demand for wheat rises, major efforts are underway to improve productivity by producing varieties that can withstand adverse weather and disease, and that provide greater yields. However, until now the very large size and complexity of the genome have been significant barriers to crop improvement.
Klaus Mayer said: "Bread wheat is a complex hybrid, composed of the complete genomes of three closely related grasses. This makes it very complex and large; in total it is almost five times bigger than the human genome."
See more here:
UK, German and US scientists decipher complex genetic code to create new tools for breeders and researchers across the ...
Recommendation and review posted by Bethany Smith
Major breakthrough in deciphering bread wheat's genetic code
Public release date: 28-Nov-2012 [ | E-mail | Share ]
Contact: Rob Dawson 01-793-413-204 Biotechnology and Biological Sciences Research Council
Scientists have unlocked key components of the genetic code of one of the world's most important crops. The first analysis of the complex and exceptionally large bread wheat genome, published today in Nature, is a major breakthrough in breeding wheat varieties that are more productive and better able to cope with disease, drought and other stresses that cause crop losses.
The identification of around 96,000 wheat genes, and insights into the links between them, lays strong foundations for accelerating wheat improvement through advanced molecular breeding and genetic engineering. The research contributes to directly improving food security by facilitating new approaches to wheat crop improvement that will accelerate the production of new wheat varieties and stimulate new research. The analysis comes just two years after UK researchers finished generating the sequence.
The project was led by Neil Hall, Mike Bevan, Keith Edwards, Klaus Mayer, from the University of Liverpool, the John Innes Centre, the University of Bristol, and the Institute of Bioinformatics and Systems Biology, Helmholtz-Zentrum, Munich, respectively, and Anthony Hall at the University of Liverpool. W. Richard McCombie at Cold Spring Harbor Laboratory, and Jan Dvorak at the Univerisity of California, Davis, led the US contribution to the project.
The team sifted through vast amounts of DNA sequence data, translating the sequence into something that scientists and plant breeders can use effectively. All of their data and analyses were freely available to users world-wide.
Professor Neil Hall said: "The raw data of the wheat genome is like having tens of billions of scrabble letters; you know which letters are present, and their quantities, but they need to be assembled on the board in the right sequence before you can spell out their order into genes."
"We've identified about 96,000 genes and placed them in an approximate order. This has made a strong foundation for both further refinement of the genome and for identifying useful genetic variation in genes that scientists and breeders can use for crop improvement."
Minister for Universities and Science David Willetts said: "This groundbreaking research is testament to the excellence of Britain's science base and demonstrates the capability we want to build on through the agri-tech strategy currently being developed.
"The findings will help us feed a growing global population by speeding up the development of new varieties of wheat able to cope with the challenges faced by farmers worldwide."
View original post here:
Major breakthrough in deciphering bread wheat's genetic code
Recommendation and review posted by Bethany Smith
Genetic breakthrough could guarantee wheat supplies
There are nearly 70 different varieties of wheat recommended for farming and suitable for bread, biscuits or for distilling. By improving wheat varieties, scientists hope to increase crops yields by engineering them to be more tolerant to disease, climate change, pests and other factors which currently affect harvests.
Co-author of the paper published in the journal Nature, Professor Neil Hall of University of Liverpool, said: "The raw data of the wheat genome is like having tens of billions of scrabble letters. You know which letters are present, and their quantities, but they need to be assembled on the board in the right sequence before you can spell out their order into genes.
"We've identified about 96,000 genes and placed them in an approximate order. This has made a strong foundation for both further refinement of the genome and for identifying useful genetic variation in genes that scientists and breeders can use for crop improvement."
The researchers created "genetic markers" from wheat varieties and compared them to ancestral grasses like rice and barley to see if desired traits were present. New varieties were then created through artificial selection for "precision breeding".
By altering the genetic code sequence of bread, wheat scientists will be able to modify the new varieties for specific characteristics, making them more resilient to guarantee good crop yields.
The raw data of the wheat genome is like having tens of billions of scrabble letters. Prof Neil Hall, Liverpool University
According to the British Society of Plant Breeders (BSPB), breeding aims to improve the quality, diversity and performance of agricultural and horticultural crops. It says none of the major food crops grown in Britain are native to this country.
Cereals, potatoes, root crops and oilseeds which make up our farmland have their origins in many different parts of the world which have been adapted through plant breeding, to thrive under UK growing conditions.
More than 680 million tonnes of wheat is processed globally each year. Scientists believe that as the world's population continues to grow, the demand for more wheat harvests will also rapidly rise and the need for sustainable farming will be greater than ever.
Professor Denis Murphy, head of the Life Sciences Research Unit at the University of Glamorgan, who was not involved in this research, said: "This is a landmark paper that outlines the genetic blueprint of one of the major global crops. Bread wheat provides a vital staple food to billions of people across the world and is found in products ranging from chapattis and pita breads to biscuits and western-style leavened (raised) bread.
Original post:
Genetic breakthrough could guarantee wheat supplies
Recommendation and review posted by Bethany Smith
Human genetic variation recent, varies among populations
ScienceDaily (Nov. 28, 2012) Nearly three-quarters of mutations in genes that code for proteins -- the workhorses of the cell -- occurred within the past 5,000 to 10,000 years, fairly recently in evolutionary terms, said a national consortium of genomic and genetic experts, including those at Baylor College of Medicine.
"One of the most interesting points is that Europeans have more new deleterious (potentially disease-causing) mutations than Africans," said Dr. Suzanne Leal, professor of molecular and human genetics at BCM and an author of the report. She is also director of the BCM Center for Statistical Genetics. "Having so many of these new variants can be partially explained by the population explosion in the European population. However, variation that occur in genes that are involved in Mendelian traits and in those that affect genes essential to the proper functioning of the cell tend to be much older." (A Mendelian trait is controlled by a single gene. Mutations in that gene can have devastating effects.)
How events affected genome
The amount variation or mutation identified in protein-coding genes (the exome) in this study is very different from what would have been seen 5,000 years ago, said Leal and her colleagues in the report that appears online in the journal Nature. The report shows that "recent" events have a potent effect on the human genome.
Eighty-six percent of the genetic variation or mutations that are expected to be harmful arose in European-Americans in the last five thousand years, said the researchers.
The researchers used established bioinformatics techniques to calculate the age of more than a million changes in single base pairs (the A-T, C-G of the genetic code) that are part of the exome or protein-coding portion of the genomes (human genetic blueprint) of 6,515 people of both European-American and African-American decent. The research was an offshoot of the National Heart, Lung and Blood Institute Exome Sequencing Project.
Human population increase
"The recent dramatic increase in human population size, resulting in a deluge of rare functionally important variation, has important implications for understanding and predicting current and future patterns of human disease and evolution," wrote the authors in their report.
Others institutions that took part in this research include the University of Washington, Seattle; University of Michigan, Ann Arbor; the Broad Institute of MIT and Harvard.
Funding for the research came from the GO (Grand Opportunity) Exome Sequencing Project (NHLBI grants RC2 HL-103010 (Heart GO), RC2 HL-102923 (Lung GO) and RC2 HL-102924 (WHISP). The exome sequencing was supported by NHLBI grants RC2HL-102925 (Broad GO) and RC2 HL-102926 (Seattle GO).
Read more:
Human genetic variation recent, varies among populations
Recommendation and review posted by Bethany Smith
Joslin researchers increase understanding of genetic risk factor for type 1 diabetes
Public release date: 28-Nov-2012 [ | E-mail | Share ]
Contact: Jeffrey Bright jeffrey.bright@joslin.harvard.edu 617-309-1957 Joslin Diabetes Center
BOSTON November 28, 2012 As part of their ongoing research on the role of genes in the development of type 1 diabetes, Joslin Diabetes Center scientists, in collaboration with scientists at the University of Wrzburg, have demonstrated how a genetic variant associated with type 1 diabetes and other autoimmune diseases influences susceptibility to autoimmunity. The findings appear in the upcoming issue of Diabetes.
Recent studies of the human genome have identified genetic regions associated with autoimmune diseases such as type 1 diabetes. Joslin scientists in the Section of Immunobiology seek to understand how genes that are most widely associated with various autoimmune diseases contribute to disease risk.
One of these genes is PTPN22, which plays a role in lymphocyte (immune cell) function. A PTPN22 variant (or mutation) has been implicated as a risk factor for type 1 diabetes and several other autoimmune disorders. PTPN22 is involved in the formation of a key protein known as lymphoid tyrosine phosphatase (LYP), which helps control the activity of T and B cells in the immune system. The PTPN22 mutation generates a variation of LYP with a different molecular structure.
Most studies of the PTPN22 disease variant have suggested that this variant is a gain-of-function genetic mutation that enhances LYP activity and lessens the activity of T and B cells, which increases susceptibility to autoimmunity. "When immune cells are less reactive during the maturation phase of their development, the cells can evade mechanisms that help protect against autoimmunity," says study lead author Stephan Kissler, PhD, of the Section of Immunobiology. However, one study which analyzed data from humans and genetically modified mice suggested that the LYP variant associated with type 1 diabetes is a loss-of-function mutation that reduces LYP activity.
To help resolve the conflicting data, Joslin scientists conducted studies with a unique mouse model developed by Dr. Kissler's graduate student and co-author, Peilin Zheng. Using a technology that combines RNA interference, a method to silence gene expresson, with lentiviral transgenesis, a method to genetically modify animals, the scientists can manipulate gene activity in the most widely used mouse model for type 1 diabetes, the nonobese diabetic mouse (NOD). In this study, the researchers were able to easily turn off and on the PTPN22 gene in the NOD mouse. "We are the first to use this approach in the NOD mouse model," says Dr. Kissler. "It provides a very powerful way to study the contribution of PTPN22 to disease."
When PTPN22 was turned off in mice, mimicking a loss-of-function mutation, the researchers observed an increase in regulatory T cells and a decreased risk of autoimmune diabetes. "This is the first study conducted on the diabetic mouse model that supports the LYP gain-of-function hypothesis," says Dr. Kissler. "Our work should help to resolve the controversy."
By providing additional data that suggests the potential therapeutic value of PTPN22 manipulation, the study may further the development of new therapeutic options that inhibit LYP to reduce or prevent autoimmunity. "Our goal is to treat autoimmunity. Inhibiting LYP in patients may increase regulatory immune cells and could confer protection against autoimmunity, but it remains to be tested if our promising findings in this mouse model are reflected in humans," says Dr. Kissler.
The Joslin scientists are following up on this study to deepen understanding of how inhibiting PTPN22 affects T and B cells.
Read this article:
Joslin researchers increase understanding of genetic risk factor for type 1 diabetes
Recommendation and review posted by Bethany Smith
Journal Clinical Pediatrics Reports 80% of Parents Surveyed Would be Interested in Genetic Risk Assessment Testing for …
CAMBRIDGE, Mass.--(BUSINESS WIRE)--
The vast majority (80 percent) of parents with at least one child with Autism Spectrum Disorder (ASD) would pursue genetic testing if a test were available that could identify risk in a younger sibling, citing the desire for earlier identification of children at risk, earlier evaluation and intervention, closer monitoring and lessened anxiety. The findings were reported in Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders, a survey published online today in the journal Clinical Pediatrics.
The survey of 162 parents of children with ASD also reported an almost three-year lag from the time ASD was initially suspected until a child received a diagnosis--even in families with a previously diagnosed child. Link to publication.
The internet-based survey was sponsored by IntegraGen, Inc. and conducted during February and March 2012. Earlier this year, the CDC announced that ASD prevalence in the United States has increased to one in 88 children, and even with increased awareness, the average age of ASD diagnosis is greater than four years.
The majority of parents surveyed said they would be interested in having their child tested if a genetic test was available that could identify ASD risk--even if it could not confirm a diagnosisin order to facilitate an earlier diagnosis and access to therapies known to make a positive impact on their childs development, stated the studys primary investigator Elizabeth Couchon, M.S., L.G.C., a licensed genetic counselor and medical sciences liaison for IntegraGen, Inc., which recently launched the ARISk Autism Risk Assessment Test. This multi-SNP (Single Nucleotide Polymorphism), gender-specific genetic screening test looks at 65 genetic markers associated with ASD to assess the risk of autism in children under the age of 36 months who have an older sibling with ASD, paving the way for early diagnosis, early intervention and better outcomes Our goal was to better understand parents experiences with the ASD diagnostic process, assess their anxiety levels about the risk of ASD recurring in their family, and gauge attitudes regarding the use of a genetic risk assessment test to evaluate risk for ASD in younger siblings, she added. The survey found that families experienced a significant delay in the time it took to get an ASD diagnosis when they realized something was wrong, even when they had an older child with ASD.
Parents who have one child with ASD are often anxious about younger siblings since we know there is a genetic component and that ASD runs in families, says national autism expert Antonio Hardan, M.D., a member of IntegraGen's advisory board and one of the studys co-authors. These parents often know the signs and symptoms of ASD, and typically recognize issues with their younger childrens development. Many also know earlier diagnosis and intervention leads to better outcomes, so the availability of an early screening tool that could aid with early diagnosis would relieve some of their anxiety.
The average recurrence risk for siblings of children affected with ASD has been reported as 18.7%, a 20-fold increase compared to the prevalence of ASD in the general population, suggesting a strong genetic component to the cause of ASD. However, despite the increased risk to siblings, the earlier identification and diagnosis of those siblings at highest risk remains a challenge. The survey was limited to parents living in the United States with at least one child diagnosed with ASD. The survey also focused on parents who had both an older child with ASD and undiagnosed siblings under the age of 48 months.
Among the key findings:
About IntegraGen:
IntegraGen SA (ALINT.PA) is a biotechnology company dedicated to molecular biomarker discovery. The company is headquartered in Evry, France-based and has a wholly-owned US subsidiary is located in Cambridge, Massachusetts. The Companys goal is the development of molecular diagnostic products and services that provide clinicians with new tools to personalize diagnosis, treatment and therapy for complex debilitating diseases. Its Genetic Services Business provides state-of-the-art genotyping services to the research community. Focusing its efforts on the early identification of children at risk for autism spectrum disorder (ASD), IntegraGen has made inroads in identifying a number of common genetic variants associated with ASD. The Company has recently launched the ARISk Test in the United States providing a genetic screening tool for the early identification of children at risk for ASD.
Recommendation and review posted by Bethany Smith
Genetic variation recent, varies among populations
Public release date: 28-Nov-2012 [ | E-mail | Share ]
Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine
HOUSTON -- (Nov. 29, 2012) Nearly three-quarters of mutations in genes that code for proteins the workhorses of the cell occurred within the past 5,000 to 10,000 years, fairly recently in evolutionary terms, said a national consortium of genomic and genetic experts, including those at Baylor College of Medicine.
"One of the most interesting points is that Europeans have more new deleterious (potentially disease-causing) mutations than Africans," said Dr. Suzanne Leal, professor of molecular and human genetics at BCM and an author of the report. She is also director of the BCM Center for Statistical Genetics. "Having so many of these new variants can be partially explained by the population explosion in the European population. However, variation that occur in genes that are involved in Mendelian traits and in those that affect genes essential to the proper functioning of the cell tend to be much older." (A Mendelian trait is controlled by a single gene. Mutations in that gene can have devastating effects.)
The amount variation or mutation identified in protein-coding genes (the exome) in this study is very different from what would have been seen 5,000 years ago, said Leal and her colleagues in the report that appears online in the journal Nature. The report shows that "recent" events have a potent effect on the human genome.
Eighty-six percent of the genetic variation or mutations that are expected to be harmful arose in European-Americans in the last five thousand years, said the researchers.
The researchers used established bioinformatics techniques to calculate the age of more than a million changes in single base pairs (the A-T, C-G of the genetic code) that are part of the exome or protein-coding portion of the genomes (human genetic blueprint) of 6,515 people of both European-American and African-American decent. The research was an offshoot of the National Heart, Lung and Blood Institute Exome Sequencing Project.
"The recent dramatic increase in human population size, resulting in a deluge of rare functionally important variation, has important implications for understanding and predicting current and future patterns of human disease and evolution," wrote the authors in their report.
###
Others institutions that took part in this research include the University of Washington, Seattle; University of Michigan, Ann Arbor; the Broad Institute of MIT and Harvard. Other BCM researchers who took part include Dr. Christie M. Ballantyne, Mengyuan Kan, Fremiet Lara-Garduno, Dajiang J. Liu, Gao Wang and Dr. Haleh Sangi-Haghpeykar.
Go here to see the original:
Genetic variation recent, varies among populations
Recommendation and review posted by Bethany Smith
The Wonderful World of Planaria – Genetics 3452 – Video
The Wonderful World of Planaria - Genetics 3452
Group 1 #39;s Video Project for Genetics 3452: PlanariaFrom:Richard RiveraViews:0 0ratingsTime:06:36More inScience Technology
Link:
The Wonderful World of Planaria - Genetics 3452 - Video
Recommendation and review posted by Bethany Smith
The Causes of Bunions EXPLAINED – Video
The Causes of Bunions EXPLAINED
As a podiatrist a very commonly asked question is what caused my bunion, in this video, I attempt to explain the causes of Bunions from high heels to genetics.From:1374sethViews:0 0ratingsTime:01:09More inPeople Blogs
See the rest here:
The Causes of Bunions EXPLAINED - Video
Recommendation and review posted by Bethany Smith
Steam Power WITHOUT Boiling? (Brainstorm Ep118) – Video
Steam Power WITHOUT Boiling? (Brainstorm Ep118)
Follow us on Twitter twitter.com Like us on Facebook http://www.facebook.com Nanotechnology News tinyurl.com Neuroscience News tinyurl.com Genetics News tinyurl.com Hosted by http://www.youtube.com Contributors http://www.facebook.com - Raychelle and Monica http://www.facebook.comFrom:qdragon1337Views:196 50ratingsTime:05:30More inScience Technology
Read more from the original source:
Steam Power WITHOUT Boiling? (Brainstorm Ep118) - Video
Recommendation and review posted by Bethany Smith
Are We Close to A Skynet Takeover? – Video
Are We Close to A Skynet Takeover?
Experts at the prestigious University of Cambridge will conduct research into the "extinction-level risks" posed to humanity by artificially intelligent robots. The Cambridge Project for Existential Risk is dedicated to "ensuring that our own species has a long-term future" by studying the risks posed by AI, nanotechnology and biotechnology. "The scientists said that to dismiss concerns of a potential robot uprising would be "dangerous," reports the BBC. The project was co-founded by Huw Price, Bertrand Russell Professor of Philosophy at Cambridge, Martin Rees, Emeritus Professor of Cosmology Astrophysics at Cambridge, and Jaan Tallinn, the co-founder of Skype. It also counts amongst its advisers Max Tegmark, Professor of Physics, MIT and George M Church, Professor of Genetics at Harvard Medical School. An article written by Tallinn and Price warns that artificially intelligent computers or robots could take over "the speed and direction of technological progress itself," and shape the environment of planet earth to their own ends while displaying about as much concern for humanity as we do for a bug on the windscreen. Far from being resigned to works as science fiction such as in the Terminator films, the threat posed by a potential future "rise of the robots" has never been closer to reality. The study echoes the predictions of respected author, inventor and futurist Ray Kurzweil, renowned for his deadly accurate technological forecasts. http://www.infowars.com ORDER THIS ...From:InfowarsHeadlineHDViews:0 0ratingsTime:08:55More inNonprofits Activism
View original post here:
Are We Close to A Skynet Takeover? - Video
Recommendation and review posted by Bethany Smith
PGG Wrightson Stud Tour – Ep 23 – Moto-Nui Romneys – Video
PGG Wrightson Stud Tour - Ep 23 - Moto-Nui Romneys
Rural TV NZ in association with New Zealand #39;s leading agriculture company, PGG Wrightson, present the PGG Wrightson Stud Tour 2012. MOTU-NUI ROMNEYS - Masterton - Taihape - Wyndham This week we catch up with the many families that now make up the Motu-Nui brand of sheep genetics spanning from Taihape to Southland with the hub of the operation based at ICA station the home of Jason LeGrove. Tony Glynn, of RuralTV.co.nz, meets with the satelite studs of Bruce and Carolyn Robertson at Motu-Nui South near Wyndham and Donald Sandra Fannin of Motu-Nui Hiwi near Taihape, who were both well established Romney studs in their own right before coming under the Motu-Nui umbrella. We also catch up with Davey Wendy Moore who look after the Terminal rams at Holmwood and Mike Kate Tosswill who look after the composite rams at Pakaraka both near Masterton According to Castlepoint Station manager, Stu Neale, the Motu-Nui rams are no-nonsense sheep bred on steep hill country. Jason LeGrove - Phone : 06 372 3841 MAKE SURE YOU SUBSCRIBE TO OUR YOU-TUBE CHANNEL TO WATCH THE NEXT EPISODE OF THE PGG WRIGHTSON STUD TOUR! JOIN RURAL TV NZ on FACEBOOK : http://www.facebook.com FOLLOW Us on TWITTER : twitter.comFrom:RURALTVNZViews:0 0ratingsTime:26:59More inEntertainment
Read more:
PGG Wrightson Stud Tour - Ep 23 - Moto-Nui Romneys - Video
Recommendation and review posted by Bethany Smith
Sabrina talks genetics – Video
Sabrina talks genetics
Why people should buy a dog from a breeder who does genetic testing. For the record, Sabrina does not belong to me.From:k9s4happinessViews:2 0ratingsTime:00:50More inPets Animals
Go here to see the original:
Sabrina talks genetics - Video
Recommendation and review posted by Bethany Smith
2012 Winner of the Prime Minister’s MacDiarmid Emerging Scientist Prize – Dr James Russell – Video
2012 Winner of the Prime Minister #39;s MacDiarmid Emerging Scientist Prize - Dr James Russell
Dr James Russell, the 2012 Prime Minister #39;s MacDiarmid Emerging Scientist, describes how his innovative combination of ecology, statistics and genetics is keeping rats away from predator-free islands.From:Aliki WViews:3 0ratingsTime:00:46More inScience Technology
Read more from the original source:
2012 Winner of the Prime Minister's MacDiarmid Emerging Scientist Prize - Dr James Russell - Video
Recommendation and review posted by Bethany Smith
SECRET REVEALED: How to master ANY skill – Video
SECRET REVEALED: How to master ANY skill
See more at: http://www.empowernetwork.com Most people don #39;t know about this secret.. By watching this video, you #39;re going to learn a secret, most people don #39;t know. HOW TO MASTER ANY SKILL * Everything #39;s a skill. If someone has done it - you can do it to. Luck and genetics have very little do do with it. The proof is insurmountable. #1- UNCONSCIOUS INCOMPETENCE We are all unconsciously incompetent at something. We don #39;t know what we don #39;t know. We don #39;t know the little intricacies about what make the possible stuff possible. #2- CONSCIOUS INCOMPETENCE * You know what you don #39;t know. It #39;s like when you were learning how to tie your shoe and you were learning the process, but you were incompetent at it. Just like, you were incompetent in the beginning at driving. #3- CONSCIOUS COMPETENCE * You know now how to do it and you have to think about it as you do it. #4- UNCONSCIOUS COMPETENCE * You don #39;t have to think about doing the thing and you just automatically do it. This is the stage you must strive to aim for - by taking massive action and powerful focus at the stage of "conscious competence" - by constantly doing it, by constantly practicing the "practice". ...and then... there will come a time where it just happens... automatically. THE HIERARCHY OF LEARNING *low - receiving by lecture or reading *better - discussing *one of the best - by teaching SECRET WAY OF LEARNING FAST: Modeling * Find a mentor - find someone who #39;s really good at that skill. Modeling their actions, their ...From:RJ BulaongViews:6 0ratingsTime:18:10More inPeople Blogs
Here is the original post:
SECRET REVEALED: How to master ANY skill - Video
Recommendation and review posted by Bethany Smith
Moby Dick – Dry Weight Yield Results – Video
Moby Dick - Dry Weight Yield Results
# of Plants: 1 Genetics: Dinafem Moby Dick Flowering Time: 67 days Light Source: Blackstar Chrome 720w LED Final Yield: 80.75 GramsFrom:GrowBigTVViews:10 0ratingsTime:00:42More inEducation
Read this article:
Moby Dick - Dry Weight Yield Results - Video
Recommendation and review posted by Bethany Smith
Qrazy Train – Dry Weight Yield Results – Video
Qrazy Train - Dry Weight Yield Results
# of Plants: 1 Genetics: TGA Subcool Qrazy Train Flowering Time: 67 days Light Source: Blackstar Chrome 720w LED Final Yield: 74.91 GramsFrom:GrowBigTVViews:15 0ratingsTime:00:31More inEducation
Go here to see the original:
Qrazy Train - Dry Weight Yield Results - Video
Recommendation and review posted by Bethany Smith
Genetics Video – Group Two Fall 2012 BIOL – Video
Genetics Video - Group Two Fall 2012 BIOL
This is the video. It is about Punnett Squares or sometime. Genetics Video - Group Two Fall 2012 BIOLFrom:Jacob LunaViews:3 0ratingsTime:04:19More inComedy
See the original post here:
Genetics Video - Group Two Fall 2012 BIOL - Video
Recommendation and review posted by Bethany Smith