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Archive for April, 2010

Autism in the News – Thursday, 04.22.10

Santa Cruz Police search for missing autistic man (Santa Cruz, Calif.)
Santa Cruz Police are searching for a missing, at-risk autistic man who has not been seen since 2 a.m. Wednesday. Read more.

Cops make arrest in break-in at Elm Park’s Eden II School for autistic children (Staten Island, N.Y.)
Police say they have one piece of the puzzle in the March break-in at the Eden II School for autistic children in which heartless thieves made off with video games, toys — even Star, the kids’ pet hamster. Read more.

Workers with Asperger Syndrome or autism can fill workplace needs (Kansas City, Kan.)

Do you need a worker who pays attention to detail? Who will do tedious data entry job? Who won’t waste time gossiping? Read more.

Autism Speaks helps parents through first 100 days on the spectrum (Los Angeles, Calif.)
Autism Speaks, a national organization, raises money and awareness for families with autistic children. Bob and Suzanne Wright founded the program in New York five years ago after their grandson was diagnosed. It has quickly spread nationwide and now raises money to fund research, develop advocacy and help families. Read more.

Rodney and Holly Robinson Peete tell story of autistic son and their journey together (Los Angeles, Calif.)
He played football, quarterbacking games in the NFL. She starred on a couple of popular TV series and has films to her credit. Read more.

Akron: Mother of dragged autistic student demands better training (Akron, Ohio)
The mother of a high school student with autism says her son’s ordeal points to the need for better training in Ohio for school employees who deal with special needs students. Read more.

Parents criticize autism insurance coverage (Richmond, Va.)
A group of 30 parents is complaining to Virginia insurance regulators that health plans are deceiving consumers about coverage for autistic children. Read more.

Cuts hurt programs for disabled (Ft. Wayne, Ind.)
Announcements of school closings and teacher layoffs have resounded across the state as Indiana continues to deal with tax revenue losses and an ongoing recession. Other state-funded services, including those for people with developmental disabilities, are taking substantial hits as well. Read more.

New Research Raises Hope That Autism Effects May Be Reversible (Medical News Today)
A new study by researchers at The George Washington University School of Medicine and Health Sciences’ Department of Biochemistry and Molecular Biology raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. Researchers have identified potentially removable chemical tags (called “methyl groups”) on specific genes of autistic individuals that led to gene silencing. They also observed these changes in cells derived from blood, opening the way to molecular screening for autism using a blood test. Read more.

Ups and downs make ‘Fashion Speaks’ a catwalk to remember (The Daily Princetonian)
If the standing-room-only crowd that packed into the Rockefeller College Common Room last Friday night came to glimpse some of the hottest bodies in Princeton, it certainly found them. The student models’ chiseled abs and exposed cleavage has always attracted an audience to “Fashion Speaks,” Service in Style’s annual charity fashion show, just as much (if not more than) the clothes they are wearing – and this year was no exception. Read more.

Psychiatrist says teen was anxious on day of killing (Woburn, Mass.)
A child psychiatrist testified in the murder trial of John Odgren yesterday that the mentally disturbed teenager had an obsession with violence and viewed the date he killed a fellow student, Jan. 19, 2007, as ominous because the number 19 was a recurring sign in a Stephen King thriller series. Read more.

Palm Beach Civic Association names Bob Wright new CEO

April 22, 2010 1 comment

Autism Speaks Co-founder Bob Wright has been selected as the new chairman and CEO of the Palm Beach Civic Association. Read an article in the Palm Beach Daily News about his appointment.

Beyond genetics: What the new fields of functional genomics and epigenetics are revealing about autism

April 22, 2010 9 comments

Today’s guest post comes to us from Valerie W. Hu, Ph.D. Dr. Valerie Hu is a Professor of Biochemistry and Molecular Biology at The George Washington University Medical Center as well as a mother of a son with ASD.  She redirected her research focus towards autism about 5 years ago and has since published 6 papers on the genes and biological pathways associated with ASD.  Dr. Hu received her Ph.D. in Chemistry from Caltech and did her postdoctoral research in Membrane Biochemistry and Immunology at UCLA.  More information about her research and papers can be obtained at:  http://www.gwumc.edu/biochem/faculty_vhu.html

For many years, genetics has followed the traditional approach to identifying genes associated with various disorders, including autism.  However, the wide diversity of symptoms and behaviors associated with autism spectrum disorders (ASD) has posed a significant challenge to identifying mutations in one or a few genes that are reliably associated with ASD.  More recent attention has focused on copy number variants (CNVs) which are submicroscopic regions of chromosomes that have been found to be lost or duplicated in some individuals with ASD. Together, these studies are making progress in identifying a number of genes that function at the synapse between nerve cells. Nevertheless, the combination of all known genetic mutations still does not account for the majority of autism cases or for the association of non-neurological symptoms observed in autistic individuals.

My laboratory at The George Washington University Medical Center has taken a functional genomics approach to studying genes that may be deregulated in autism.  Rather than identify mutations in DNA, our goal has been to identify genes whose activity, as indicated by gene expression level, is altered in order to identify dysfunctional biochemical pathways and impaired cellular functions in autism.  Thus, using a method known as DNA microarray analysis to profile gene expression in cells from identical twin pairs who are differentially diagnosed with autism (one autistic, the other not reaching the threshold for an autism diagnosis), sibling pairs where only one sibling is autistic, and unrelated case-controls, we identified many genes whose expression levels (activities) are different from non-autistic individuals.  Furthermore, by subtyping the unrelated autistic individuals according to symptomatic severity across over 63 symptoms probed by a commonly used diagnostic assessment instrument (Autism Diagnostic Interview-Revised), we were able to identify gene “signatures” for each of 3 ASD subtypes studied.  These signatures not only revealed genes unique to a given subtype of autism, but also overlapping genes that presumably control common symptoms of autism across subtypes.  Interestingly, a set of genes that regulate the biological clock (that is, circadian rhythm) were found to be disrupted only in the subtype of ASD exhibiting severe language impairment.

These studies demonstrating different gene expression signatures between identical but differentially diagnosed twins as well as revealing differential expression of hundreds to thousands genes depending on ASD subtype suggest the involvement of  “master switches” (or epigenetic mechanisms) in the control of gene expression.  Two new studies by our laboratory, published in two different journals on Apr. 7, 2010, suggest that epigenetics may play a significant role in the regulation of gene expression in autism (read a blog from AS staff on epigenetics).  In one study, published in the FASEB Journal, we identified chemical tags (called “methyl groups”) on the DNA of individuals with autism that led to gene silencing. This mode of turning off a gene is potentially reversible with the proper drugs if the specific gene can be properly targeted.  The second study, which was published in the journal Genome Medicine, reports on the differential expression of microRNA in autism.  MicroRNA are recently discovered snippets of RNA (ribonucleic acid), each of which can inhibit the expression (and thus activity) of hundreds of genes.  The effects of microRNA are also reversible by treatment with complementary “anti-sense” RNA.  While methylation inhibits gene expression at the level of DNA, microRNA inhibits at the level of RNA.  These two studies together illustrate two different “epigenetic” mechanisms controlling gene activity in autism that lie beyond genetic mutations.

In the study published in the FASEB Journal, we again used cell lines derived from identical twins and sibling pairs in which only one of the twins or siblings was diagnosed with autism to identify chemical changes on DNA. We then compared the genes that showed changes in DNA tagging (methylation) with a list of genes that showed different levels of expression from these same individuals. The amounts of protein produced by two of the genes that appear on both lists were then investigated in brain tissues from the cerebellum and frontal cortex of autistic and control subjects which were obtained through the Autism Tissue Program.  We found that both selected proteins, RORA (retinoic acid-related orphan receptor-alpha) and BCL-2, as predicted by the observed increase in methylation, were reduced in the autistic brain.  Although BCL-2 has previously been reported to be reduced in autistic brain, RORA is a novel gene which is relevant to many of the observed deficits in autism.  Specifically, RORA is involved in several key processes negatively affect by autism, including Purkinje cell differentiation, cerebellar development, protection of neurons against oxidative stress, suppression of inflammation, and regulation of circadian rhythm.

These results suggest that blocking the chemical tagging of these genes may reverse some symptoms of autism if targeted removal of methyl groups from specific genes can be accomplished.  Furthermore, this study, which links molecular alterations in blood-derived cells to brain pathobiology, demonstrates the feasibility of using more easily accessible cells from blood (or other non-brain tissues) for diagnostic screening.

This research is reported in the study, titled “Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain,” which was recently published in the Federation of American Societies for Experimental Biology (FASEB) Journal, and is available online at: http://www.fasebj.org.

In the study published in Genome Medicine, we identified changes in the profile of microRNAs between twins and sibling pairs, again discordant for diagnosis of autism.  We discovered that, despite using cells derived originally from blood, brain-specific and brain-related microRNAs were found to be differentially expressed in the autistic samples, and that these microRNAs could potentially regulate genes that control many processes known to be disrupted in autism.  For example, differentially expressed miRNAs were found to target genes highly involved in neurological functions and disorders in addition to genes involved in gastrointestinal diseases, circadian rhythm signaling, and steroid hormone metabolism. The study further shows that by treating the cells with antisense RNA antagonists (inhibitors) to specific microRNA or by employing mimics of a particular microRNA, one can reverse the pattern of expression of a given target gene regulated by that microRNA.

This study, titled “Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines” was highlighted as an “Editor’s pick” in the journal Genome Medicine.  It is available online at: http://genomemedicine.com/content/2/4/23.

By integrating both DNA methylation and miRNA expression studies with gene expression data, Dr. Hu and colleagues are applying a systems biology approach to understanding this complex disorder.

Categories: Science Tags: , ,

Tune In – “Understanding Autism” on SIRIUS/XM Doctor Radio

Tune in to SIRIUS|XM’s Doctor Radio (SIRIUS Ch. 114 & XM 119) Friday, April 23 as they help to raise autism awareness during autism awareness month. “Doctor Radio Reports – Understanding Autism” will air from 10 am to 12 pm EDT. The program will feature leading scientific experts, as well as leaders in the corporate world, to discuss autism, autism research and vocational opportunities. Guests include Autism Speaks’ own Chief Science Officer Geri Dawson, Ph.D., Craig Newschaffer, Ph.D.,  Drexel University; Melissa Nishawala, M.D., NYU School of Medicine; Kim DeOre, M.D., NYU School of Medicine and mother of a child with autism; Peter F. Gerhardt, Ed.D.,  Organization for Autism Research; and Randy Lewis, parent and Walgreens executive (see more below). Noted journalist Perri Peltz will serve as the segment’s anchor person.

The program will replay the following times:
Friday, April 23 – 8:00 pm ET
Saturday, April 24 – 10:00 am and 4:00 pm
Sunday, April 25 – noon and 8:00 p.m.

Then on Sunday, April 25, “American Voices,” on SIRIUS|XM Stars Channel (channel 102) hosted by Senator Bill Bradley, will air a special segment with Randy Lewis. Walgreens has been staunch proponent for creating innovative vocational opportunities for adults with disabilities including autism. Show times are below.

Sunday, April 25
2:00 am – 3:00 am ET
6:00 am – 8:00 am ET
10:00 am – 11:00 am ET

Listen to a promotional spot for Friday’s episode below.


Autism in the News – Wednesday, 04.21.10

Missing Wellington teens found safe in Hallandale Beach (Wellington, Fla.)
Two autistic Wellington teenagers missing since early Monday have been found and are doing fine, WPTV-Ch. 5 reports. Read more.

Parenting an Autistic Adult (NYT.com)
When we talk about autism (which we are doing often during Autism Awareness Month), we tend to talk about children and ways that their parents can help. But children grow, and the parents of autistic children become parents of autistic adults, a role that is less defined and less discussed. In a guest blog today, Laura Shumaker, author of “A Regular Guy:Growing Up With Autism,” describes one weekend with her grown son Matthew, navigating the changing rules one interaction at a time. Read more.

Autism insurance bill goes to Oklahoma governor (Oklahoma City, Okla.)
Oklahoma Gov. Brad Henry’s desk is the next stop for legislation requiring health insurers to cover the same illnesses for autistic children as they do children without the condition. Read more.

Triple Shooting in Athens (Athens, Ga.)
Athens-Clarke Police have identified the 29-year-old woman killed Tuesday in a triple-shooting that left her mother and sister injured and her brother as a suspect. Read more.

Missing Klamath County boy found (Klamath Falls, Ore.)
Search crews from seven Oregon counties are credited with finding a 13-year-old Klamath County boy missing since Monday afternoon. Read more.

Father says Odgren long spoke of suicide (Woburn, Mass.)
John Odgren was anxious, frustrated with the teasing and the harassment. He had thoughts of getting a “golden gun’’ and shooting one of his bullies, and he told his parents that he wanted to kill himself. Read more.

Osage community reacts to death of 3-year-old Aiden Bell (Osage, Ark.)
The death of Aiden Bell is, of course, hitting his family hard.  It’s also a difficult time for the whole Osage community.  It’s a small, close-knit community in the Ozark mountains of southern Carroll County. The news is also affecting people for a hundred miles around. Read more.

Albany program starting to help autistic children have fun (Albany, Ga.)
“Cheerleaders Against Autism” is the name of a new local organization forming to help autistic children have fun. The organization will have summer cheerleading camps beginning in June for boys and girls ages four to 16-years-old. Read more.

A Day to Remember

April 20, 2010 1 comment

Last month, the Children’s Museum of Pittsburgh hosted 160 guests for an Autism Awareness Day. An area mother whose family participated in the day’s activities sent us an e-mail and a photo that we couldn’t help but share with you!

Gus and Henry had a fantastic time and we can’t wait to go back. Gus has been talking about how cool it was since we left. His favorite thing was the “text rain” installation – the wall projection of letters drifting to the ground. When you stand in front of it, your shadow can catch the letters. Gus told me he wanted one in his bedroom! He also told me the next day that he would like to bring that letter rain home with him and kiss it. He talked me into cutting out construction paper letters and then hanging them from his ceiling (photo below). He smiles every night looking at it before he falls asleep.

This was the first time our family had visited the Children’s Museum. While I used to say we didn’t go because it was too far and we didn’t have time, the fact is, taking two kids with autism to public places can be sort of tough. My boys absolutely LOVED the museum. We can’t wait to visit again. The staff were great with the kids, and there is just so much cool, fun sensory stuff to do; we can’t stay away. Thank you Children’s Museum and Autism Speaks!

- Ellen Cicconi

Gus' "text rain" installation

Autism in the News – Tuesday, 04.20.10

Autism insurance reform touted as a good start (Topeka, Kan.)
Advocates for people with autism on Tuesday praised a new law that requires the health insurance plan for state employees to cover treatments, but said it is only a first step. Read more.

Study Provides New Insights into the Implications of Autism Onset Patterns (Newswise)
Kennedy Krieger Institute announced today new study results showing that when and how autism symptoms appear in the first three years of life has vital implications to a child’s developmental, diagnostic, and educational outcomes. Published this month in the Journal of Autism and Developmental Disorders (Epub ahead of print), this study found children with early developmental warning signs may actually be at lower risk for poor outcomes than children with less delayed early development who experience a loss or plateau in skills. Read more. 

Small boy disappears in southern Carroll County Ark. (Osage, Ark.)
The National Guard has joined other emergency responders and volunteers in the search for a missing toddler in Carroll County. The Emergency Management Office says the 3-and-a-half-year-old boy wandered away from his home near Osage on Monday afternoon. Read more.

Do Good (Variety)
Five years ago, WME’s Ari Greenburg signed up for a walk to benefit autism research shortly after his son Tyler was diagnosed with the condition. Read more.

Odgren lawyers face hurdles in insanity defense (Woburn, Mass.)
No one denies that he did it. John Odgren fatally stabbed a fellow student with a foot-long carving knife in a bathroom at Lincoln Sudbury Regional High School three years ago, and that has not been disputed in his trial on a charge of first-degree murder. Read more.

Boston’s autism app (Boston.com)
Michael Duggan was overturning a table of trophies and jamming his hands into a celebratory cake at a sports banquet for disabled youths several years ago when he met Boston Mayor Thomas Menino. The two hit it off. Now, the 19-year-old Roslindale man and his family are teaming up with key players in Boston City Hall to improve the lives of people with autism, a disorder that robs people like Michael of normal linguistic and social abilities. Read more.

New Utah law asks churches to accommodate people with autism (Salt Lake City, Utah)
A new Utah law will use faith to help people with autism. Read more.

Autism Speaks Co-Founders Featured in Leaders Magazine

Bob and Suzanne Wright sit down with Leaders Magazine to discuss the genesis of Autism Speaks.

Autism in the News – Monday, 04.19.10

140Sweets Launches Encore Event on May 4 to Benefit Autism Speaks (New York, N.Y.)
A mix of sugar, positivity, and philanthropy was the recipe for success for social media-based, 140Sweets (formerly known as Cupcakes4Charity) at its fall launch event October 2009. This year 140Sweets is supporting the nation’s largest autism science and advocacy organization, Autism Speaks. On Tuesday, May 4, 140Sweets will hold its next event at Connolly’s Pub in NYC at 54th Street and 6th Avenue, from 6-10 pm. All proceeds benefit Autism Speaks. Read more.

People with autism, finding jobs (Ariz.)
Autism is growing. One in 110 are diagnosed with it today. In Arizona, that number is higher: 1 in 100. Why? No one knows. But those people are also growing up. There are half a million people in the United States with autism who will be entering adulthood in the next decade. Autism does not shorten a life span so they have many possible productive years. What will they do? Read more.

School blends students with, without autism (Columbus, Ohio)
Rebecca Morrison had no blueprint and plenty of people quick to second-guess her dream. Read more.

Red flags overlooked in 12-year-old’s prescription drug death (Miami, Fla.)
Born with autism, 12-year-old Denis Maltez was “hyper, needy, pesty,”‘ his psychiatrist wrote following a May 2007 visit. Read more.

Understanding autism: Fast-growing disability remains a challenge for parents, researchers (El Paso, Texas)
Sgt. 1st Class David Taylor has been a member of the Autism Society of El Paso for just two months. Read more.

Discover New Music While Raising Autism Awareness

everybodyWINS, a “Battle of the Bands”-style online video competition, launched in partnership with ShareTheMic and H2H Media, will join artistry and advocacy by bringing together new music with Autism Speaks’ awareness message. Beginning Monday, April 19, two music videos will “battle” every two days. Your votes will decide who moves on to the next round, and ultimately who earns the chance to represent Autism Speaks.

Visit http://autismspeaks.sharethemic.org/ and vote for your favorite bands each day.

We’d like to thank all of the bands who are helping us raise awareness about autism. We’d also like to thank our great friends at SharetheMic and Oktane Media for putting this amazing competition together!

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