MedWorm provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest medical blog items that have been tagged with 'dna education'. Sat, 03 Sep 2011 02:53:11 +0100 http://www.medworm.com/index.php?rid=3480887&cid=t_179633_131_f&fid=35008&url=http%3A%2F%2Fscienceroll.com%2F2010%2F04%2F18%2Fdnatwist-teaching-students-about-pharmacogenomics%2F Berlin et al. published a very interesting paper in Clinical Pharmacology and Therapeutics about DNATwist which is an online tool for teaching middle and high school students about pharmacogenomics. DNATwist is a Web-based learning tool that explains pharmacogenomics concepts to middle- and high-school students. Its features include (i) a focus on drug responses of interest to teenagers (e.g., alcohol intolerance), (ii) reusable graphical interfaces that reduce extension costs, and (iii) explanations of molecular and cellular drug responses. In testing, students found the tool and topic understandable and engaging. The tool is being modified for use at the Tech Museum of Innovation in California. (Source: ScienceRoll) ScienceRoll blogs http://www.medworm.com/rss/comments.php?id=3480887 Sun, 18 Apr 2010 00:18:23 +0100 3480887 http://www.medworm.com/index.php?rid=1980894&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FpxrKw9GTpSk%2F MARBLES stands for Markers of Autism Risk in Babies—Learning Early Signs. The study investigates “biological and environmental triggers that children are exposed to prenatally and post-partum”: Some 100 women who have a biological autistic child and who are pregnant, or who are planning on becoming pregnant, are participating in MARBLES, which began in 2006. Researchers from the UC Davis-M.I.N.D. Institute are collecting blood, urine, hair, saliva, and breast milk (if the mother is breast feeding), as well as dust from participants’ houses, and mothers are interviewed and medical records examined. It’s noted that MARBLES is “unique” because follows mothers before, during, and after their pregnancies, allowing us to obtain information about the pre-... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1980894 Sun, 23 Nov 2008 07:22:48 +0100 1980894 http://www.medworm.com/index.php?rid=1947284&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FxD3Dg2h1PYs%2F “[A] sweeping theory of brain development that would change the way mental disorders like autism and schizophrenia are understood”——a “new idea” that “provides psychiatry with perhaps its grandest working theory since Freud, and one that is grounded in work at the forefront of science”: Today’s New York Times uses such grand language to introduce a new theory of psychiatric disorders in which parents’ genes are “in competition.” The theory is the work of Bernard Crespi, a biologist at Simon Fraser University in Canada, and Christopher Badcock, a sociologist at the London School of Economics. Here’s how the New York Times describes it: Dr. Crespi and Dr. Badcock propose that an evolutionary tug of war between gene... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1947284 Tue, 11 Nov 2008 05:32:10 +0100 1947284 http://www.medworm.com/index.php?rid=1943413&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F-lyjpR51Ujg%2F Linking autism to rates of rainfall could be said to be a quite extensive attempt to find an environmental cause of autism, and one that is clearly external and not genetic. Since the study was reported earlier this week, it’s been getting a lot of press. Two genetic studies were also recently noted this week: Ars Technica looks closely at one study on language genes. Another study published in the Archives of Pediatric and Adolescent Medicine looks at parents’ concerns about their own risk and their children’s risks for genetic disease. With the development of genetic testing and, too, of direct-to-consumer genetic tests, parents can find out a lot more about their genetic profile and quite readily. Is there a tendency to shy away from genetic theories of autism because ... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1943413 Fri, 07 Nov 2008 21:23:36 +0100 1943413 http://www.medworm.com/index.php?rid=1886447&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2FBwq1xI1iz5k%2F Researchers from the Seaver and NY Autism Center of Excellence at New York’s Mount Sinai School of Medicine have developed a new method to detect copy number variants associated with autism spectrum disorders and have also found new chromosomal duplications that can be linked to autism.The study is published in the October 16th BMC Medical Genomics. 279 child with ASDs were screened for micro-duplications and -deletions in regions of the genome that have been connected to other cognitive conditions. The researchers detected several previously known duplications associated with autism, but also some that had not previously been recognized. The approach that psychiatry researcher Joseph Buxbaum and his colleagues used is multiplex ligation-dependent probe amplification, or MLPA which, it&#... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1886447 Fri, 17 Oct 2008 16:43:20 +0100 1886447 http://www.medworm.com/index.php?rid=1399171&cid=t_179633_131_f&fid=34976&url=http%3A%2F%2Ftalk.dnadirect.com%2F2008%2F04%2F25%2Fcelebrate-dna-day%2F Happy DNA Day, everybody! Today is great opportunity to celebrate DNA — whether you’re a student, an expert, a science lover or a novice. So put on your DNA t-shirts, get out there and hug a helix. (I’d love be a grown-up kid at Dr. Barry Star’s events at the Tech Museum of Innovation today, [...] (Source: DNA Direct Talk) DNA Direct Talk blogs http://www.medworm.com/rss/comments.php?id=1399171 Fri, 25 Apr 2008 18:02:00 +0100 1399171 http://www.medworm.com/index.php?rid=1162044&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F219145885%2F Researchers from the University of New South Wales report on a new way to detect autism earlier by studying the connectivity of the brain; it is hoped that, by incorporating psychological and biological factors in assessing young children, autism might be detected earlier. Another way to screen for autism in young children—-and even in children prior to birth—would be via genetic testing. Last week, scientists in the New England Journal of Medicine published a study about the deletion or duplication of chromosome 16 and susceptibility to autism. A January 18th Toronto Star article the family of 11-year-old Joshua Bond, who has autism and who is missing chromosome 16 (Joshua was involved in the study at The Hospital for Sick Children). The next step, already underway at Sick K... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1162044 Sat, 19 Jan 2008 00:33:41 +0100 1162044 http://www.medworm.com/index.php?rid=1161053&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F218773364%2F Geneticist Michael Wigler has proposed a “unified genetic theory of autism.” Drawing on his work studying cancer genetics, Wigler took a different approach than that of researchers using classical Mendelian genetics; last year he published two articles about spontaneous mutation and autism. A March 2007 paper in Science suggested that large genetic events—”copy number variations, where large segments of DNA are duplicated or deleted–that arose spontaneously in a child (without appearing in a parent)“—could account for more than 30 percent of cases of atuism. A July paper in the Proceedings of the National Academy of Science USA stated that spontaneous mutation accounts for 75 percent of cases and noted why some families might be at “high risk... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1161053 Fri, 18 Jan 2008 10:05:06 +0100 1161053 http://www.medworm.com/index.php?rid=1146461&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F215387031%2F CNTNAP2 (contactin-associated proteinlike 2) is a gene that indicates susceptibility for autism, as noted in a new study by Alarcón et al., in the January 10th American Journal of Human Genetics. Another article in the same journal by Aravinda Chakravarti et al. of the Johns Hopkins University School of Medicine has found that a variation in CNTNAP2 raises the risk of having autism, especially when the gene with that variation is inherited from the mother. CNTNAP2 is a member of the neurexin superfamily and is, as noted in the January 11th Science Daily, “makes a protein that enables brain cells to communicate with each other through chemical signals and appears to play a role in brain cell development.” The researches studied two groups of first participants. The first was ... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1146461 Sat, 12 Jan 2008 06:46:58 +0100 1146461 http://www.medworm.com/index.php?rid=1143484&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F214811444%2F Language has always meant a lot to me: I taught myself to read when I was four years old and reading immediately became one of my favorite things to do. I started studying languages—French, a little Cantonese, then Latin and ancient Greek, German, Mandarin, Arabic—-when I was in elementary school and have always been drawn to literature, to poetry and novels, and poetry and novels and plays written in other languages. So when people hear me describe Charlie—-who’s not fond of books, has learned to sight-read several nouns on flashcards (he does not recognize them in a book, not yet), and severely speech delayed—I sense some perplexity. Shouldn’t I be disappointed that I have a son so impaired in precisely the areas that I excel in? I am sure that I wen... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1143484 Fri, 11 Jan 2008 06:35:36 +0100 1143484 http://www.medworm.com/index.php?rid=1142468&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F214530182%2F More news studies on the genetics of autism: CNTNAP2 is contactin-associated proteinlike 2; it is “a blueprint of sorts for an important protein involved in the ability of brain cells to communicate with each other properly,” today’s ABC news reports. Three separate studies, published today in American Journal of Human Genetics, confirm a link between autism and this gene, which is associated with language and thought in young children. Dietrich Stephan comments on the three studies in Unraveling Autism. Share This (Source: Autism Vox) Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1142468 Thu, 10 Jan 2008 18:03:37 +0100 1142468 http://www.medworm.com/index.php?rid=1140986&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F214227213%2F Conclusions We have identified a novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases. We did not identify other regions with similar aggregations of large de novo mutations. The January 10th New York Times comments: The finding is not likely to improve diagnosis or treatment for most children struggling with autism or related problems anytime soon, experts said, but it points to a specific chunk of DNA where some developmental problems could originate. ………….. The rate of the chromosome alteration in a group of normally developing people was one in 10,000. “The analysis tells us that this is a very strong risk factor for autism, increasing the risk ... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1140986 Thu, 10 Jan 2008 06:42:51 +0100 1140986 http://www.medworm.com/index.php?rid=1119879&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F207419585%2F While 2007 saw the publication of new research into the genetics of autism, scientists do not yet know what combination of genes—some 30 to 100 have been pointed to—-are involved. The December 28th New York Times profiles children and their families who are in something of the opposite situation. Through newly available DNA testing, some families—-like those of 14-year-old Samantha Napier and 4-year-old Taygen Lane, and of Noa Ospenson, and of Jackson Dopp—have found out that their children have extremely rare genetic disorders resulting from a minute chromosonal aberration. Samantha and Taygen are among six children with the diagnosis “16p11.2.” Some 100 families have children like Noa who are “22q13.” Jackson, who was given a diagnosis of a... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1119879 Fri, 28 Dec 2007 07:56:56 +0100 1119879 http://www.medworm.com/index.php?rid=1047616&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F189514517%2F The CNN special on autism, Autism: Finding Amanda, will NOT be airing tonight due to liveprogramming on Larry King. Parts of the segment can be seen on  this site, and discussion about autism, adults with autism, and the show here. How did the turkey DNA get in the dinosaur bone? Eye on DNA has a (possible) answer by way of an interview with Dr. Jonathan Wells: Maybe someone dropped a turkey sandwich at a dig? All I can say is, that question of “how did this [turkey DNA] get here [on the dinosaur bone]?” recalls a question I frequently ask myself when I find a certain shirt of mine that has been missing tucked neatly in the space between the wall and Charlie’s mattress, or when I come upon a piece of well-crumbled paper shoved in the bottom of his “blue ca... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1047616 Sat, 24 Nov 2007 00:22:15 +0100 1047616 http://www.medworm.com/index.php?rid=1030175&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F185308688%2F I am honored to have Gabrielle Sedor from Fertility Notes guest posting today. I am a newcomer to the field of autism services. But then again, I am not. I have worked in the field of intellectual disabilities (or, mental retardation, as some still call it) for almost ten years. As autism started making headlines on a daily basis (CDC Reports 1 in 150 Children Are on the Autism Spectrum; Vaccines Ties to Autism, or Are They?; New Autism Charity Founded….) the association where I work decided to query our members to see what kind of experience they had providing services to people living with autism. Over 90% of them told us they had been doing it for years. We were totally taken by surprise. But we shouldn’t have been. In the absence of an autism service system in Pennsylvani... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1030175 Thu, 15 Nov 2007 17:03:58 +0100 1030175 http://www.medworm.com/index.php?rid=1028236&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F185245633%2F I’m guest posting today on Fertility Notes (which provides “all the news your womb can use). I posted about Early, Early Diagnosis and Prenatal Testing for Autism; look for a guest post by Gabrielle Sedor later today. Share This (Source: Autism Vox) Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1028236 Thu, 15 Nov 2007 14:42:42 +0100 1028236 http://www.medworm.com/index.php?rid=1027149&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F184973028%2F Many say that a child may have a genetic “predisposition” to autism, or a weak immune system, etc., but that some “environmental factor” is “triggering” autism: How do genes and the environment interact? Rice University physicist and bioengineer Michael Deem has a new theory about how the changing environment may influence genetic structure. As noted in the November 14th Science Daily: The study by Deem and postdoctoral fellow Jun Sun found the structure of genetic information becomes increasingly modular when two conditions are taken as givens: horizontal gene transfer (HGT) and a changing environment. Like modular furniture that can be rearranged in different functional patterns, modular genes are standardized components that lend themselves to flexible rearrangement, and thi... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=1027149 Thu, 15 Nov 2007 01:51:08 +0100 1027149 http://www.medworm.com/index.php?rid=979231&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F174867980%2F The first genome scan for autism has been completed following the analysis of genetic data from more than 3000 autistic children and their family members. The October 24th Science Daily reports that “new high resolution technology” developed by the company Affymetrix has made it possible to make the genetic data accessible to researchers very quickly. Funding from the Autism Consortium, which is a “network of leading scientists, physicians, and families [who] are working together to get fast results in the search for treatments,” has expedited the process. Thomas Insel, Ph.D., Director of the National Institute for Mental Health, is quoted: “Today’s release of genetic and phenotypic data on autism marks a significant achievement for the autism research c... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=979231 Thu, 25 Oct 2007 14:21:36 +0100 979231 http://www.medworm.com/index.php?rid=927924&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F165285674%2F I was not alone in recently receiving an enigmatic, and (if I may so), sinister-toned email from one “Adam Smith,” making the claim that the rise in the prevalence of autism is caused by the “the mixing of different ethnic groups.” “Smith” even asserts that “Autism is caused by the mixing of different ethnic groups.” Orac at Respectful Insolence makes it clear that “‘Smith’ has it all wrong”: What’s almost certainly bothering this “Adam Smith” is not the “mixing” of Russians with Dutch or Spanish with Irish or French with British. What is almost certainly really bothering “Adam Smith” is the influx of all those nasty dark-skinned races into Europe and the increasing acceptanc... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=927924 Thu, 04 Oct 2007 16:50:58 +0100 927924 http://www.medworm.com/index.php?rid=926263&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F165127314%2F Studies that indicate that autism is genetic are often roundly decried by those who believe that autism is caused by vaccines, or thimerasol, or other environmental, “extra-genetic” factors. Remarks such as “there can’t be a genetic epidemic” and “what is causing genes to mutate” are frequently offered. On the other hand, such statements suggest that more education in genetics and its terminology would be helpful in understanding why it is highly unlikely that some single “autism gene” can be found, and even some one factor that is causing genes to “mutate.” Epidemiologist and biotech consultant Dr. Hsien-Hsien Lei notes how a recent article on cancer risk in the LA Times confused the terms “gene” and “gene... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=926263 Thu, 04 Oct 2007 09:47:42 +0100 926263 http://www.medworm.com/index.php?rid=923751&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F164558565%2F Is language (like tying knots) unique to humans—is being able to talk and think in language part of being human? I might have answered this question with an “of course” in what seems like another life now, a life I lived before I became the mother of a boy with minimal language. My husband Jim and I are both very verbal—big (and rather fast) talkers and early, self-taught readers. Charlie, now 10 and some months, has more to say with each day. I refer frequently to music here as it seems more and more to be a “language”—a mode—-that channels communication among the three of us. Learning to read has been a process of many years for Charlie (in the past year and a half, he has slowly memorized not quite 30 nouns on flashcards), whereas he has ... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=923751 Wed, 03 Oct 2007 06:05:57 +0100 923751 http://www.medworm.com/index.php?rid=823608&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F148759591%2F Eye on DNA quotes Dr. David Levin in an article, The Genetic Journey in the Johns Hopkins Public Health Magazine feature: The existing approaches and tools of genetic epidemiology work well to identify responsible factors when you’re dealing with diseases caused by a single mutation. They don’t work so well for complex diseases involving multiple genetic and environmental factors—some of the major public health problems in the U.S., like obesity, heart disease and Alzheimer’s [my emphasis]. To my mind, there’s a need for population-based and laboratory-based sciences to coalesce and develop new approaches to complex disease causation [my emphasis]. The first step is to train people in interdisciplinary ways so they understand the molecular sciences as well as epidemiology and bio... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=823608 Mon, 27 Aug 2007 11:41:23 +0100 823608 http://www.medworm.com/index.php?rid=760512&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F137678311%2F Autism cases due to genetic accidents and, indeed, “freak genetic accidents,” in a Zee News (India Edition) article about the recently published study on spontaneous genetic mutations and autism. Autism compared to a freak accident? Sounds a bit in the category of referring to autism as, for example, a train wreck. To some degree, one might say that we are all “genetic accidents”—-”accident” being from the Latin word accidit, “it happens.” And as I have often stated, I’m very glad Charlie “happened” to me. Share This (Source: Autism Vox) Autism Vox blogs http://www.medworm.com/rss/comments.php?id=760512 Thu, 26 Jul 2007 17:34:57 +0100 760512 http://www.medworm.com/index.php?rid=757982&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F137389824%2F Another discovery in genetics besides the new study on spontaneous genetic mutations an autism may not get as much attention, but could bring some real relief. Scientists at the Washington University School of Medicine in St. Louis have foun the first gene connection to the sensation of itching. Science Daily reports: The “itch gene” is GRPR (gastrin-releasing peptide receptor), which codes for a receptor found in a very small population of spinal cord nerve cells where pain and itch signals are transmitted from the skin to the brain. The researchers, led by Zhou-Feng Chen, Ph.D., found that laboratory mice that lacked this gene scratched much less than their normal cage-mates when given itchy stimuli. The laboratory experiments confirmed the connection between GRPR and itching... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=757982 Wed, 25 Jul 2007 22:37:38 +0100 757982 http://www.medworm.com/index.php?rid=756745&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F137114907%2F Spontaneous gene mutations may account for half of all cases of autism in males: By now you’ve probably heard about this finding, and about a new model of autism genetics published in Proceedings of the National Academy of Sciences. For a cogent overview, see John Timmer’s July 24th post on Ars Technica. The title of the post, Autism may all be in the genes contains a hidden polemic: Most people take the view that a person has a “genetic predisposition to autism which is “triggered by environmental factors” and shy away from saying that autism is wholly genetic. Timmer notes that “genetics can accurately model much of the incidence of autism if you make some very specific assumptions about modes of inheritance”—assumptions which are based on... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=756745 Wed, 25 Jul 2007 05:44:36 +0100 756745 http://www.medworm.com/index.php?rid=733819&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F133383713%2F Former Maine School Administrative District 34 board member Kenneth Joondeph is being tried on three sex charges in Waldo County Superior Court in Maine, as reported in the July 12th Village Soup. One of the charges involves a non-verbal autistic child. I think that’s all I’ll say. Share This (Source: Autism Vox) Autism Vox blogs http://www.medworm.com/rss/comments.php?id=733819 Fri, 13 Jul 2007 15:22:53 +0100 733819 http://www.medworm.com/index.php?rid=733821&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F133159815%2F There is currently no genetic test for autism; the mention of one can incite a serious discussion: If there were a prenatal genetic test for autism, and if expecting parents found out that they might or would have a child with autism, what choice might they make? Would they keep the child? Might they choose to abort the child? (About 90% of women who learn that they will have a child with Down syndrome choose not to have the child.) Autism is currently diagnosed based on behavior; would a genetic test provide a definitive answer for parents trying to understand what their has and what they might do? My friend Dr. Hsien Hsien Lei is a consultant for DNA Direct, which provides clinical genetic testing online. She posts some thoughtful comments on perceptions of DNA testing in the context of... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=733821 Thu, 12 Jul 2007 23:14:08 +0100 733821 http://www.medworm.com/index.php?rid=721364&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F131898918%2F This study can be said to open more questions, rather than to provide answers: What does it mean that “20-60 percent of the variations that predispose someone to autism” also predispose them to bipolar disorder, or to schizophrenia? If some interplay between genes and the environment might lead to autism, is it really possible to develop something like a blood test or other prenatal test? And, as we learn more about the genetics of autism, new questions arise, such as whether families should own genetic information?, as Hsien Hsien Lei asks Eye on DNA. What will be the impact of knowledge about autism and genetics not only on our understanding of autistic persons, but on families in which there is an autistic relative? Share This (Source: Autism Vox) Autism Vox blogs http://www.medworm.com/rss/comments.php?id=721364 Mon, 09 Jul 2007 10:43:58 +0100 721364 http://www.medworm.com/index.php?rid=718846&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F131246927%2F Yesterday I noted that MSG has been mentioned as a possible cause of autism; today, Dr. John Cannell, a psychiatrist, claims that the rise in the incidence of autism is due to pregnant women not getting enough Vitamin D, as noted in today’s Globe and Mail. According to the Vitamin D Council: Falling vitamin D levels over the last 20 years due to sun‑avoidance explain autism’s rapid increase in incidence during that same time. The very different effects estrogen and testosterone have on vitamin D metabolism may explain why boys are much more likely to get it than girls are. Lower vitamin D levels in blacks may explain their higher rates of autism. The vitamin D theory has tenable explanations for all the epidemiological features of autism. Dr. Cannell being a “vitamin D ... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=718846 Fri, 06 Jul 2007 22:52:46 +0100 718846 http://www.medworm.com/index.php?rid=716636&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F130990371%2F Gene Expression in a post entitled A top-down approach to genetic networks notes that a number of recent genome-wide association studies have found “that many seemingly disparate phenotypes share some genetic pathways.” Cited is a recent PNAS (Proceedings of the National Academy of Science) paper: The authors seem to be particularly interested in autism, which they find correlates with a number of neurological disorders, but also bacterial and viral infections and autoimmune disease: Our estimated significant overlap between autism and tuberculosis may indicate that both diseases are associated with genetic changes weakening the immune system. Very interesting—-though I like Gene Expression’s thoughtful closing point: The amount of data generated by the medical com... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=716636 Fri, 06 Jul 2007 05:38:46 +0100 716636 http://www.medworm.com/index.php?rid=710314&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F129883881%2F My friend Liz Ditz of I Speak of Dreams sent me this link for iron-on labels after I noted concerns about Charlie wandering away and getting lost. Label-Land’s iron’s on labels are 100 for $9.99—-good thing; Charlie grows so fast he needs new clothes (pants and shorts, certainly, plus his arms are long) every season. Another friend, Hsien Hsien Lei at Eye on DNA, noted another item, Toothprints, which (according to the manufacturer, Kerr Dentistry) can make a full bite impression to identify missing children. The manufacturer also claims that DNA can be extracted from the saliva left on the wafer, and that enough scent remains for a trained dog to detect a child by. Not that we don’t work on teaching Charlie to “stay by mom and dad” and to keep a firm g... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=710314 Mon, 02 Jul 2007 22:31:50 +0100 710314 http://www.medworm.com/index.php?rid=708842&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F129777835%2F There’s been some (heated) (impassioned) discussion in the autism community of late (go here for one exchange) about research that focuses on possible environmental factors connected to autism “versus” research that focuses on genetics (and perhaps the publicity surrounding the vaccine court hearings has contributed to this). Now that Autism Speaks has announced (on June 29th) that it will fund 52 projects in autism research, for a total of $15.2 million, these exchanges will surely continue. Descriptions of the projects can be found here. Ten of the grants are specifically devoted to treatment students. Regarding the rest, Autism Speaks notes: Along with the ten grants devoted to treatment studies, there are: 11 grants pertaining to determining the etiology, or causes, o... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=708842 Mon, 02 Jul 2007 15:25:09 +0100 708842 http://www.medworm.com/index.php?rid=655543&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F121966387%2F Being the mother of an autistic son who writes a weblog about autism enables one to talk about genes, political activism, and lawn mowers all in one post. Let me explain. My May 18th post, Infants and Autism and Education on prenatal genetic testing is included in the June 3rd Gene Genie, a blog carnival on genetics, genes, DNA, and the genome over at Eye on DNA. clipped from www.eyeondna.com Infants and Autism and Education at Autism Vox Kristina Chew looks at diagnosis for autism especially in infants. She would have been interested in prenatal genetic testing for her family so that she’d know what to expect in raising her autistic son Charlie. I suspect, however, that the majority of parents using prenatal genetic diagnosis aren’t doing so to be better prepared to raise a specia... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=655543 Mon, 04 Jun 2007 06:26:26 +0100 655543 http://www.medworm.com/index.php?rid=651193&cid=t_179633_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F121546331%2F In a special feature on DNA, Forbes magazine mentions a test for MeCP-2 as one of twelve genetics tests that could change your life; mutations in the MeCP-2 gene cause Rett’s Syndrome. And, it seems, such tests could be quite readily available before we know it: “There has been a demystification of genetic testing,” says Washington University’s Timothy Pluard. “To some degree genetic testing is not very different from having your cholesterol levels” measured. But will we be ready to find out what we might learn from genetic testing? As the Forbes article notes: Not too many years from now, researchers predict that gene findings will be used to create genetic report cards that could help predict one’s risks for cancer, heart disease, diabetes, schi... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=651193 Sat, 02 Jun 2007 03:49:24 +0100 651193