August 20, 2010

Vera Zvonareva and Rett syndrome!

2010 Wimbledon finalist and 2006 champion, Vera Zvonareva, an avid Rett syndrome supporter, competed in Cincinnati, OH for the Western Southern Financial Group Masters and Womens Open. Vera took time away from the practice courts on August 9th to attend a special private Meet and Greet with a few girls with Rett syndrome and their families.

Zvonareva serves as an international ambassador for Rett syndrome and spreads awareness around the world when she travels to tournaments. She became familiar with Rett syndrome after her best friend's daughter was diagnosed.

Vera spent time and took photos with four families and their daughters: Kelly Rich, 15 , Paige Bergman, 11, Chloe Bell, 7 and Gabby Rodriguez, 3.

Vera, who had a bye for her first match, defeated fellow Russian competitor, Maria Kirilenko, after several rain delays and suffering a 5-2 deficit in the third set. Zvonareva advanced to the Round of 16 to face Flavia Pennetta. Unfortunately, Zvonareva was defeated by Pennetta, and did not make it to the third Round of the Cincinnati tournament.

Vera will next compete in the US Open in New York, which begins August 30th. Let’s show Vera that she has the full support of IRSF and the Rett syndrome community and cheer her on to victory!

• Watch an interview with Vera on YouTube
• Read about Vera and Rett syndrome in the Enquirer
• "Like" Vera on Facebook and thank her for her support
• Check out Vera’s Cincinnati Meet and Greet on Facebook!
• Visit Vera at her website

Pepsi Refresh Project

The International Rett Syndrome Foundation is holding onto first place ranking in the Pepsi Refresh project, but we have not won yet! We could not be more thrilled with the rallying efforts of the entire Rett syndrome community. It is your passion that has driven us to the top and with your continued voting power, we’ll stay there for the win! Continue encouraging your friends, family, personal and business contacts to vote every day. For more information, visit www.rettsyndrome.org/pepsi

VOTE once-a-day per account every day:

1. Vote with your Pepsi Refresh account
2. Vote with your Facebook account! (click on "Login in with Facebook" on the Pepsi Refresh Site)
3. Vote via Text: Text 100842 to Pepsi (73774)
   *standard text messaging rates apply

• Sign up for the Daily email reminders and vote for IRSF in the Pepsi Refresh Project every day! If IRSF wins the $250K, your name and email address will be entered into a drawing for a chance to win an iPad! Click Here for Official Rules

The Rett syndrome Kids2Win Alliance

IRSF has chosen to partner with several other projects in the Pepsi Refresh Campaign. These projects, in large, support ideas geared toward the betterment of kids. IRSF is part of the Kids to Win voting partnership plus we’ve made some other friends along the way. They are voting for us, and we hope you’ll choose to vote for them too. We can all benefit thanks to Pepsi!

1. Research to Reality - Text: 100850
2. Cure JM - Text: 100850
3. PKU - Text 100571
4. Mokena Education Foundation - Text: 100518
5. Tug - Text: 101316
6. Monkey in My Chair - Text: 100226
7. Mini Warriors - Text: 100243
8. Golden Retriever Rescue - Text: 100021
9. Icing Smiles - Text 101351
10. BeInstrumental - Text 100496

Be inspired! Check out some articles promoting Kids2Win or Rett syndrome in the Pepsi Refresh Project, and then promote our story to your media too! (Need some help? – visit www.rettsyndrome.org/pepsi)

• YouTube Video
• Article from Monkey In my Chair
• Article from California’s Contra Costa Times by Kimberly Chua

Open National Call for October Rett Syndrome Awareness Month

You are invited to attend!

Please join IRSF and families around the country as we unite to learn how to make this October the most incredible Rett Syndrome Awareness Month yet. You will hear motivating stories, learn tips on how to get started and find out how IRSF is able to support you in the activity that best fits you and your family.

It is easy to take part!

Date:	Thursday, September 2, 2010
Time:	8:30 pm est
	7:30 pm cst
	6:30 pm mst
	5:30 pm pst
Dial:	1-800-409-5512 and use passcode 51739#

*No need to RSVP
*Call will last approximately one hour
*Dial in five minutes prior to the beginning of the call to ensure a spot on the line

Questions—please contact jendres@rettsyndrome.org or 508-362-2220

Single Parents Network

Introducing IRSF’s Single Parents Network. This special interest group, similar to the already organized Grandparents Network, Dads Network and the Parents of Males with MECP2 Mutations Network, provides the support needed to understand and overcome the unique obstacles that having a child with Rett syndrome while being a single parent brings to a family.

This network, led by Regional Representative Lisa Rushin and IRSF Family Support Coordinator Lisa Hayden, will strive to help you in times of question or need as you face Rett syndrome as a single parent. It will be a forum for camaraderie, compassion and understanding amongst parents with similar situations.

• Address the specific concerns of single parents of children with Rett syndrome
• Provide information in regard to care giving, emotional and physical demands, role within the family, relating to the child and other areas identified
• Provide a forum to exchange experiences and ideas
• Create a network directory
• Build relationships between members and IRSF

Contact Lisa Hayden at lhayden@rettsyndrome.org for more information.

Join the private group on Facebook at www.groups.to/1rettparent.

IRSF Translational Research Workshop Spawns Flurry of New Projects

The IRSF Translational Research Workshop held on March 23 and 24 in New York City served as both a catalyst for ideas and a springboard to launch them. The workshop included 25 physicians, scientists, researchers, and executives from government, academia and private industry who shared ideas about RTT, pathways to drugs and structure for moving the process forward.

Two days of lively discussion led to a series of recommendations that were quickly followed by action.

IRSF Informal Research Update

Steven Gray, PI

A gene therapy for Rett syndrome should be focused on 1) developing a reagent to achieve global CNS gene delivery and 2) to test whether delivery of MeCP2 (or other transgenes) can be efficacious for Rett Syndrome. We’ve been attacking both avenues simultaneously.

Where we are now (delivery)
On the problem of efficient and global CNS delivery, we have identified AAV vectors that can globally delivery a transgene to the CNS in adult mice after intravenous injection in a dose-dependent manner. In collaboration with the Oregon National Primate Research Center, we replicated this experiment at a single dose in 4 non-human primates. The delivery to neurons was not as robust as in mice, and pre-existing neutralizing antibodies to AAV were identified as a barrier to efficient gene delivery. We view an intravascular approach as a valuable research tool and proof-of-concept, but the high vector delivery to peripheral organs and reduces efficacy in monkeys raises serious concerns about human translation. As an alternative strategy, we have identified intra-CSF injections as a way to achieve broad CNS delivery with minimal exposure of peripheral organs. The delivery efficiency to spinal cord motor neurons can mimic the efficiency of intravascular delivery, but brain delivery is broad albeit relatively inefficient in mice. Through a collaboration with Nick Boulis at Emory University, we injected pigs by the intrathecal route and saw robust cerebellum delivery at or above the levels we get with intravenous injection in mice, with global delivery to the rest of the brain at a lower efficiency.

Where we’re going (delivery)
Using the existing AAV serotypes, our future directions are to optimize injection parameters into the cisterna magna, which can tolerate higher volumes, allowing higher doses in closer proximity to the brain than an intrathecal injection. We have initiated studies comparing 2 serotypes (AAV9 and AAV2.5) in non-human primates, based on our preliminary mouse data. As an alternative strategy to enhance delivery, our next future goal is to build upon our experience with AAV capsid directed evolution and shuffling to develop an modified AAV capsid tailored to achieve broad an efficient CNS transduction with an intracisternal or intravenous route.

Where we are now (MeCP2 gene replacement)
We’ve produced AAV vectors packaging the MeCP2 gene under a strong ubiquitous promoter (CMV/CBA), a mostly neuron-specific promoter (synapsin), an 800 bp mouse MeCP2 promoter fragment, and a truncated 229 bp MeCP2 promoter fragment. These vectors utilize a myc-epitope tag on MeCP2 to distinguish it from the endogenous protein. We’ve characterized the expression of these in HEK293 cells and observed the following strength of expression: CBA >> SYN > 800MeCP2 > 229MeCP2. We predict that the 229 bp MeCP2 promoter fragment will be the most suitable for a therapeutic application, and we’ve also produced an AAV vector using this promoter to drive GFP. The GFP vector has been injected intravenously in mice to assess expression strength and cell/tissue specificity in vivo, and we hope to have these results by the end of July.

Where we are going (MeCP2 gene replacement)
At this year’s IRSF meeting, I made an offer to provide the AAV/MeCP2 reagents available to anyone interested in using them as research tools or to investigate efficacy. Several investigators indicated some interest in this regard. I am also preparing for my own experiments to deliver the CBA-MeCP2 and 229-MeCP2 vectors into a RTT model by intracranial and intravenous injection. The endpoints of these studies will be limited, but hopefully they will address the feasibility of a MeCP2 gene replacement strategy. Another potential approach is to delivery BDNF or another factor downregulated by MeCP2 (such as Serpine2 or STMN2) to improve the CNS environment, but this approach is only in a conceptual stage of development.

Macro Roles of microRNAs in Rett Syndrome?

They were overlooked for decades, dismissed out of hand as the flotsam and jetsam of cellular degradation. But over the past few years, molecular biologists have discovered that the tiny segments of RNA once thought to be random pieces of genetic material actually do something—several things, in fact. These small RNAs are known as microRNA (miRNA for short). MiRNAs were first described more than a decade ago by scientists working with Caenorhabditis elegans, a species of nematode worm favored by researchers because of the simplicity of its genome. In typical cell development, double-stranded DNA is “read” by single-stranded messenger RNA which translates (“codes”) the genetic information into proteins that drive cell development. The nematode discovery revealed that some genes instruct the RNA not to code for proteins, but for other, non-translating, RNA. Small bits of non-coding RNA had been observed inside cells for years, but scientists thought they were just evidence of cell aging or environmental damage.

From 1998 to 2002, different groups of researchers found indications that these microRNAs play a vital role in cell development. These short segments of microRNA interact with the longer strands of messenger RNA, intervening in its coding and translation process to influence the degree to which certain proteins are expressed. Scientists now believe miRNAs are a key force controlling gene expression, stem cell differentiation, and tissue development.

The work from Peng Jin’s (Emory University) and Xinyu Zhao’s (University of New Mexico) shows that microRNAs could also play a role in Rett syndrome as well. They found that MeCP2 could regulate the expression of specific microRNAs, particularly miR-137. The absence of functional MeCP2 leads to the increased expression of miR-137, which affects neurogenesis and neuronal maturation. These findings demonstrate that besides protein-coding mRNAs, MeCP2 could also directly regulate the expression of noncoding RNAs, particularly microRNAs. Identification of miR-137 as a target of MeCP2 also provides us a new target for therapeutic development. In summary microRNAs could play macro roles in the pathogenesis of Rett Syndrome.

NINDS Epilepsies EUREKA Program (RFA-NS-11-003)

NINDS is seeking applications that propose exceptionally innovative research that could have a transformative effect on biomedical or biobehavioral research in the epilepsies. These disorders involve disruption of basic neurobiological functions at all levels, including cellular/molecular biology and genetics, cognitive/behavioral and systems neuroscience, neuroplasticity, and neurodevelopment. Investigators from outside the field of epilepsy are strongly encouraged to submit applications to this funding opportunity announcement that apply knowledge from these areas to bring potentially paradigm-shifting approaches to the study and/or treatment of the epilepsies. Investigators who are currently working in epilepsy research are encouraged to submit applications on highly innovative concepts that cannot be supported through other research mechanisms. Applications from new collaborative teams are particularly encouraged. For additional information, please view the Request for Applications at: http://grants.nih.gov/grants/guide/rfa-files/RFA-NS-11-003.html

The deadline for the Eureka letters of intent (encouraged, but not required) is July 13, 2010. The deadline for application submission is August 13, 2010.

NINDS Cooperative Program in Translational Research for Resistant Epilepsy and Epileptogenesis (PAR-10-144 and PAR-10-143)

NINDS is also announcing a call for applications for translational research to support preclinical development of new therapies to cure epilepsy, prevent the emergence of epilepsy in high-risk groups, or to better treat individuals with intractable epilepsy. The program will facilitate solicitation, development, and review of therapy-directed projects to accelerate the translation of basic research discoveries into therapeutic candidates for clinical testing. This program is specifically directed at projects that include therapeutic leads with demonstrated activity against the intended disease target. The program supports preclinical optimization and testing of these leads and projects must be sufficiently advanced that an Investigational New Drug (IND) or Investigational Device Exemption (IDE) application to the FDA can be submitted by the end of the project period. This is a milestone-driven cooperative agreement (U01) program involving participation of NIH staff in the development of the project plan and monitoring of research progress. An exploratory (R21) program is also available to support projects intended to complete preliminary steps in the pipeline. Such projects, if successful, should lead directly to a subsequent project that will include all remaining activities for submission of IND or IDE application to the Food and Drug Administration (FDA). For more information, please view the Funding Opportunity Announcements at (U01): grants.nih.gov/grants/guide/pa-files/PAR-10-144 and (R21): grants.nih.gov/grants/guide/pa-files/PAR-10-143.

Both of these programs run for three years, and application deadlines follow the standard submission dates for the U01 and R21 mechanisms. (The next submission date for a new U01 is June 5, 2010, with a letter of intent encouraged 30 days in advance. The next submission date for a new R21 is June 16, 2010).

Exceptional Parent Magazine features Rett syndrome

The August issue of Exceptional Parent Magazine, featuring an article on Rett syndrome is available through the month of August. The Organizational Spotlight appears on page 62. Exceptional Parent Magazine is currently offering a free three month trial, after which time, a 12 month subscription can be purchased for only $9.95.

To access the August 2010 digital issue of Exceptional Parent, please go to www.eparentdigital.com and when prompted enter the email address Augustcomp@eparentdigital.com and the password healthcare2010. Both are case sensitive. Please feel free to share this link with all who might benefit.

County Partnership Creates ‘Disability Awareness Day’

Wednesday, June 16 - TD Bank Ball Park, Bridgewater

When one of her twin daughters, Marykate, was diagnosed with Rett syndrome at age 18 months, EmPoWER Somerset Executive Director Sharon Lutz was faced with the overwhelming task of navigating a whole new world of information.

"As her Mom, I wanted to do everything I could to understand the disorder, which was then completely new to me, and to find out what help was available to our family," said Lutz. "I would spend hours looking for programs and services that would help her development, clicking on website after website and compiling my own list of resources."

It was after this frustrating experience that Lutz approached colleagues at the Somerset County Department of Human Services and worked with them to establish the Somerset County Childhood Disability Coalition, which she co-chairs with Mark Malone, coordinator of the Somerset County Office for the Disabled.

This group brought together representatives of several different organizations that provide services to children with disabilities and their families. Their collective efforts led to the development of the Somerset County Childhood Disability Resource Guide, which will be available both in print and online at www.ChildhoodDisability.com "I can't thank the Board of Chosen Freeholders and the caring members of the Somerset County Childhood Disability Coalition enough for all of their time and expertise in creating this essential resource," said Lutz.

"We know that developmental disabilities, including autism, affect more children in New Jersey than in any other state," said Freeholder Director Jack M. Ciattarelli. "Autism alone affects one in every 94 children in New Jersey, compared to the national average of one in every 110. It is critical that parents be able to access the services and programs that are available to help their children and families."

The release of the Somerset County Childhood Disability Resource Guide was promoted at "Disability Awareness Day" at the June 16 Somerset Patriots game at TD Bank Ballpark in Bridgewater. Offering 50 wheelchair-accessible seats, the ballpark has always provided a recreational experience for all, and seemed like the perfect community venue to debut this new resource and raise public awareness.

Individuals with special needs were involved in Disability Awareness Day in many ways. Students from McAuley School for Exceptional Children sang God Bless America during the pre-game ceremony, and both this song and the Star-Spangled Banner were interpreted in sign language. For the first time ever at the ballpark, the between-inning games included a wheelchair race around the bases.

The first 1,000 fans received seat cushions and information will be available at the Somerset County Childhood Disability Coalition’s informational table in the concourse area. Printed copies of the Somerset County Childhood Disability Resource Guide were distributed, along with information on how to access the guide online. Resource information from a variety of community organizations were also available at the table.

Miss New Jersey International 2010, Brielle LaCosta, who has done extensive volunteer work to raise awareness about autism, made a special appearance and signed autographs. Children had the opportunity to receive a free "Happy Healthy ME!" T-shirt and used fabric markers to decorate it with their own unique design. A trainer from The Seeing Eye provided tips for interacting with guide dogs and how to become a trainer. Used eyeglasses for "New Eyes for the Needy" were collected at the table.

All Somerset County special-needs schools were invited to request a limited number of complimentary tickets. Reduced-rate tickets were available to community organizations or other interested groups serving children with special needs and their families.

The Somerset County Childhood Disability Coalition will continue to meet and move forward in enhancing access to information and resources for parents and other family members caring for children with special needs in Somerset County.

STROLLATHON SEASON IS UPON US ONCE AGAIN! Get into it! Find an event near you!

As we get into the heart of Summer 2010 many families across the country are gearing up for the Strollathon happening in or around their community! IRSF and dedicated volunteers all over have increased the number of Strollathons from 15 last year to over 20! The Strollathon, IRSF’s signature event is a not only a hope-filled day with fun family entertainment, refreshments and mingling, it’s a chance to bring together all the families affected by Rett syndrome coast to coast. The Strollathon program has raised over $2 Million each year to fund cutting edge research and has propelled IRSF to where we stand today – so close to finding treatments and a cure for Rett syndrome.

You may have participated before or maybe this is your first year, either way, this is the year to get involved! We can’t do this alone – we need you, your family and your community to join us in our fight to find a cure for all the girls and women battling Rett syndrome. We are challenging families from all to create a Strollathon Team or Teams for their Rett angels, plan a smaller event in your area or just participate virtually by hosting an online fundraiser at www.firstgiving.com/rettsyndrome! If each family and their teams of friends, family and neighbors committed to raising at least $2,000 can you imagine the difference we could make?!

Why Fundraise? Why the Strollathon? See what IRSF Family Advisory Board Member Mickie McCool says Fundraising for IRSF means to her! www.youtube.com/watch?v=cqkZmFmvroQ.

Want to participate, but cannot attend a Strollathon? For those families not able to attend a Strollathon in your state, you could consider participating virtually through our First Giving Strollathon Pages – to find the link for the event near you go to www.rettsyndrome.org and click on “Strollathon Donate Now”. You can also participate by creating a smaller “wrap around event.” Wrap around events are crucial in helping to increase revenue for Strollathons. IRSF can provide you with a list of wrap around event ideas that will be easy, fun and lucrative!

Here is a testimonial from a mom in Ohio who hosts a smaller wrap-around event each year to support the Cincinnati Tri-State Strollathon:

"Last year was the first year of our 'mini-stroll.' We had come to the Cincinnati stroll for a couple of years and thought maybe we could do something closer to home to help raise awareness and money. Our Allie was 7 then, and we had lots of people who supported us and wanted to be involved, but Cincinnati is 3 hours away for us and not easy for our friends and family to get there.

Our church decided that they wanted to put it together, so we had lots of help, but it was very easy to do. We decided on a date and secured a shelter at our local park. Jenni Grammer was so great about sending pamphlets to pass out and banners to hang for the event. Church members volunteered to make cookies and donate water bottles and punch. We made posters that each had a fact about RS and put them on stakes. Jenni also sent collection envelopes so that people could collect donations before the event.

The day of the stroll, we put up the posters along the route we would be walking and set up a table for cookies and drinks. We had a place for donations and collection envelopes with someone in charge of that area. Everyone met at the shelter and our pastor offered a prayer before we began our walk. We had over 100 people there and raised just over $5,000.00!! We even had another little RS girl attend! It was such a great event we are definitely doing it again this year!"

- Traci, Columbus, OH

Every Strollathon across the country is for everyone fighting Rett syndrome. We can fight this TOGETHER; TOGETHER WE ARE BETTER, but we need your help to expand the scope and awareness of these very important events.

Your help is our hope. It is up to you to decide how you wish to participate. Think about what best fits your life right now. We hope this will be the year you will become involved—or take part again! We have won many battles up to this point, but there is still one very important one we must conquer. Won’t you join the fight?

CALIFORNIAN: Black gives back: Country star to play charity event

There's no denying that Clint Black has led quite a life and had a great deal of success ---- and not just as a singer.

He's sold more than 20 million records, had numerous No. 1 hits on the Billboard charts, written 156 songs and even tried his hand as an actor.

In fact, his latest project involves film ---- the role of Toby in "Flicka 2."

"I play a ranch foreman, which I know is a big stretch," he laughed.

But he is also quite involved with the community and charity, which brought him to South Coast Winery to help raise money for Shriners Hospital as part of the Rhythm on the Vine series. Singer Stephanie Mills performed.

Thanks to Shriners Hosptial, more than a million children have received state of the art medical care at no cost to them. In fact, Shriners Hospital for Children provides 80 percent of the prosthetic limbs in Los Angeles County.

It's no surprise to see Black on the stage for a charity event because Black has been an active participant when it comes to giving back.

"I'm very involved with the International Rett Syndrome Foundation," he said. "We lost my niece, Cortney, to this disease so I am very active in trying to help find a cure for it."

As for Shriners' Hospital, he has not been that involved with it, but he didn't hesitate to join forces with the hospital.

"They gave me a call and that got it going," he said. "What an amazing organization. To think that a million kids have been able to get care. You see the kids get cured, you see that there is a place for the families and no one gets turned away, no matter how much money they have."

It's part of a fundamental belief in the power of people.

"There are so many great causes," he said. "It's about what you do in the community that dwarfs what the nation or the government can do. Individually, you can make a difference."

As for his career, there's no doubt he loves not only writing songs but performing on stage.

"I always make time to write," Black said. "When I started making records I was determined to write every song. That's been hard work."

Black began his career in a big way with the 1989 release of "Killin' Time." The album featured five No. 1 records, all of which he wrote or co-wrote. And the hits just kept coming.

"I learned a lot about the power of songs," he said. "People will tell me that a certain song had an impact on them. The same thing happened to me."

He was and still is an avid music collector.

"I have thousands of songs, boxes of albums and I'm still always collecting," he said. "The music is so valuable to me. So, what it meant to me I realize, and I realize that some people get the same thing out of my music."

In talking to Black it becomes immediately clear that he is quite humble, despite having every reason to not be.

"I've written 156 songs and that to me is incredible," he said. "I had a friend who wrote 100 songs and to me that was remarkable. It's almost unreal that I've written as many as I have."

And if the idea of stardom seems like the motivation for most musician, that's certainly not the case with Black. In the late 1990s, he shut down his music when he left his RCA, his label for a decade, and took a hiatus. What emerged was his own company for himself and other artists that was "artist friendly."

"I had the opportunity to go back to the big labels, but I wanted to have my own label and I'd talked about it a long time," he said. "We found the right guy to run it and so that's where Equity came from."

So whether talking about record labels, songwriting, or acting, Black has many accomplishments, including being a member of the Grand Ole Opry.

"The way I was inducted into the Grand Ole Opry was during an anniversary show," he said. "Everyone was there. I looked in one place and there was Jerry Reed and over there were The Jordanaires and over there Connie Smith and Porter Wagoner. I was so exhausted from the fun and all the stories that all these legends told about the Opry. I really do feel honored to be a part of that tradition."

Whatever he is up to, it is clear music is still number one.

"I'm still making music, still growing as a singer and a songwriter and a guitarist," he said. "I still love being on stage. I'm doing what I love to do."

Father creates iPhone app that gives a 'voice' to his severely disabled daughter

Ever since his daughter was born with cerebral palsy, Martin Brooks has wished there were an easy way to communicate with her.

For years he and his wife have struggled to understand Mia's needs by getting her to look at objects or picture cards.

But after buying an iPhone last year, Mr Brooks had an epiphany. Remembering Apple's adverts that there are 'apps for everything', he decided to put the claim to the test.

And when he discovered there was nothing that suited his five-year-old daughter's specific need, he designed his own app - software for the phone that allows users to perform a specific task.

The result is iComm, which allows Mia, who cannot walk, talk or control her movements, to point out pictures of food, toys, activities and other day-to-day themes on the iPhone screen using her eyes.

Importantly, Mr Brooks and his wife Sarah Phelan, both 42, can upload their own photos so that the system can be easily customised to Mia's needs and their daughter can feature in the images to aid familiarity.

The couple can also use recordings of their voices to announce what has been selected on screen to complete the personal touch.

The software has been downloaded by more than 1,300 people since it was made available on Apple's app store in March and Mr Brooks, of St Albans, Hertfordshire, has received messages from parents around the world saying how grateful they are at the freedom of expression it gives their children.

'It has given her a voice for the first time and allowed us to understand her so much better,' he said.

'Mia is cognitively alert but unable to communicate and I was afraid that as she grew she was not going to be able to tell us what she wanted.

'I had a very strong concept in my head. I wanted to create an iPhone app to take Mia's eye-pointing to the next level.

Penn Geneticist Named 2010 Pew Scholar in the Biomedical Sciences

PHILADELPHIA - The Pew Charitable Trusts named Zhaolan (Joe) Zhou, PhD, assistant professor of Genetics at the University of Pennsylvania School of Medicine, as a 2010 Pew Scholar in the Biomedical Sciences. The program enables scientists to take calculated risks, expand their research and explore unanticipated leads. Scholars receive $240,000 over four years and gain inclusion into a select community of scientists that includes three Nobel Prize winners, three MacArthur Fellows, and two recipients of the Albert Lasker Medical Research Award. Celebrating its 25th anniversary, the program has invested more than $125 million to fund close to 500 scholars. Dr. Zhou is one of 21 2010 Scholars.

Dr. Zhou completed his doctoral work in the Department of Molecular and Cellular Biology at Harvard University, working with Dr. Robin Reed and Dr. Tom Maniatis. He then trained as a postdoctoral fellow with Dr. Michael Greenberg in the Department of Neurology and Neurobiology of Harvard Medical School. In 2009 he joined the Department of Genetics of the University of Pennsylvania’s School of Medicine. His work focuses on chemical modifications to DNA, known as epigenetic changes which alter how genes are turned on and off. Many epigenetic changes are reversible, so these changes are an indispensable mechanism for regulating how genes act in tissues such as the brain. A mutation in one protein that controls epigenetic changes is known to cause the Autism Spectrum Disorder, Rett Syndrome. Using a combination of molecular biological approaches and protein studies, Dr. Zhou is investigating how defects in epigenetic mechanisms may lead to intellectual disability. He hopes to develop approaches and tools that will revolutionize how the scientific community investigates the ways epigenetics affect health and disease.

For more information on the Scholars and their research please visit the Pew Charitable Trusts:
www.pewtrusts.org/our_work_category.aspx?id=194

World's Largest Twister Mat: Belchertown Massachusetts

On June 18, 2010 the World's Largest Twister Mat was on display at Belchertown High School to kick off a fundraiser for a Boundless Playground. The playground will be named "Jessica's Boundless Playground" after a 2009 BHS graduate who passed away soon after graduating. She was diagnosed with RETT syndrome at a young age and it left her wheelchair bound. Despite her condition, she did not let it hold her back.

MikeSeward said that every student in the school district along with their friends and family attended the event. MikeSeward and Drew Gateman started building the mat on Monday June 11, and with the help of volunteers, the mat was built and ready for the event on Friday June 18. According to MikeSeward, this Twister Mat contains 400 more individual mats than the previous world record. Click here for photos of the mat .

The Twister mat was 42 mats long and 24 mats wide. One thousand eight mats were used to make it. For more information on check out: www.WorldsLargestTwisterMat.blogspot.com, www.JessicasBoundlessPlayground.com, and www.BoundlessBelchertown.Blogspot.com.

MO Autism Bill Signed by Gov Nixon

June 11, 2010 was a big day for Missouri families of children with autism. That's when the Gov. Nixon signed HB 1311, which requires health insurers to provide coverage for the diagnosis and treatment of autism spectrum disorders. This is great news! Children with autism spectrum disorders will have more access to therapies and the measure will also help reduce families' financial burden. For more information on the bill you can go to Autism Votes.

Below is another helpful link. Note a lot of the bill discusses ABA therapy, but there are additional provisions.
www.missouriautismcoalition.com/2010_legislation

Event Calendar

“Coming together is a beginning. Keeping together is progress. Working together is success.”

~ Henry Ford

Note:

Please Update Your Contact Information with IRSF

Please contact Lisa Hayden at lhayden@rettsyndrome.org or by calling 1-800-818-7388 to easily and quickly update your information.

Please send ALL MAIL to 4600 Devitt Drive Cincinnati, OH 45246.
Please send ALL DONATIONS to P.O. Box 706143 Cincinnati, OH 45270-6143 .


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