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Mouse model of autism offers insights to human patients, potential drug targets
By Duke Medicine News and Communications
DURHAM, N.C. -- A new mouse model of a genetically-linked type of autism reveals more about the role of genes in the disorder and the underlying brain changes associated with autism’s social and learning problems.
Scientists at Duke Health who developed the new model also discovered that targeting a brain receptor in mice with this type of autism could ease repetitive behaviors and improve learning in some animals.
Their report, published May 10 in the journal Nature Communications, suggests that among more than a dozen different lines of mice developed around the world to mirror autism caused by mutations to the SHANK3 gene, Duke researchers are the first to create a mouse in which that gene has been completely eliminated.
The total “knockout” of the gene makes the model more effective for studying SHANK3-related autism and Phelan-McDermid syndrome in humans, many of whom are missing the gene completely, said senior author Yong-hui Jiang, M.D., Ph.D., an associate professor of pediatrics and neurobiology
“This is an important first step in understanding the process of the disorder in humans,” Jiang said. “For many families affected by autism, this is something that could provide hope and potentially lead to a treatment.”
SHANK3 is essential to the function of synapses in the brain and communication between neurons.
Jiang said autism researchers worldwide could use the mouse model to study ways to compensate for the gene and improve symptoms in people with autism spectrum disorders and Phelan-McDermid Syndrome, a more profound developmental condition caused by mutations to SHANK3 and other genes in chromosome 22.
Over the past five years, researchers observed abnormal brain activity in the SHANK3 knockout mice when compared to controls. The knockout mice would vocalize less, groom obsessively to the point of losing fur, fail to heed the established social hierarchy in groups, and were often unable to locate their own homes, wandering into strangers’ nests.Jiang said autism researchers worldwide could use the mouse model to study ways to compensate for the gene and improve symptoms in people with autism spectrum disorders and Phelan-McDermid Syndrome, a more profound developmental condition caused by mutations to SHANK3 and other genes in chromosome 22.
“Some of the repetitive behaviors, inability to read social cues, and restricted interests copy many of the symptoms we see in people with autism,” said co-lead author Alexandra Bey, an M.D./Ph.D. candidate at the Duke University School of Medicine. Scientists at the University of North Carolina-Chapel Hill and Fudan University in Shanghai also contributed to the report.
In one experiment, mice were placed in a box with numerous holes and paths to explore. Curious control mice roamed while knockout mice often stuck to a small area and repeated the same routes.
“This replicates what see in many children with autism,” Bey said. “In children, perseveration is a behavior such as playing with the same toy over and over again in the same way, and not exploring new ways to interact with it.”
As they studied brain activity in the knockout mice, the researchers also found prominent changes in a receptor in the brain known as mGluR5 and other proteins that support the function of neurons and synapses, said co-lead author Xiaoming Wang, M.D., Ph.D., senior research associate in Duke’s department of pediatrics. The team tested two chemical compounds that target the mGluR5 receptor and found they could actually relieve the animals of some of their repetitive habits or enhance their learning.
“The regulation of this receptor is complex and gives rise to other behavioral challenges, but this is a clue for further research,” Wang said. “In the future, it’s possible that a similar class of drug could be tried on humans. We are interested to see our study help others around the world better understand this gene and how it affects synapses and hope the model can be generalized to other autism genes.”
WATCH: "The PMS International Registry:
What are you doing with my data?"
This Webinar will teach you about the types of data collected in the Phelan-McDermid Syndrome International Registry, what it tells us about our community, what opportunities and limitations it offers and more.
Rebecca Davis, the PMS_DN Data Coordinator and Registry Coordinator, provides an overview of the International Registry including summaries of who participates, where they live, age, sex and race.
Rebecca will also review how data is collected, how the data is used, opportunities (including the PMS_DN) and limitations of the registry and how you can make sure your data is up to date.
CLICK HERE TO WATCH
Once again, PhelanLucky exceeds expectations
We sold 2,650 shirts, raised $45,000
By Jennifer Randolph
Chair, Fundraising Committee
I can't begin to tell you all how thankful I am for everyone who helped to make the 2016 Phelan Lucky campaign amazing! Whether you liked our page, shared our event or bought shirts we are so appreciative for all your help. We sold more than 2,650 shirts and raised more than $45,000 for the Phelan-McDermid Syndrome Foundation.
We sold at least one item in all 50 states, the third year in a row that we have accomplished this goal. We also are sending shirts to Belgium, Brazil, Canada, the United Kingdom, Italy, Ireland, Australia and Malaysia.
We had wonderful help from a number of celebrities who joined our campaign. Among them was Chris Snee and Phil Simms of the New York Giants, Justin Perillo of the Green Bay Packers, Jordan Hicks and Vince Papale of the Philadelphia Eagles, Delaware Gov. Jack Markell and comedians Jack Gallagher, Bobcat Goldthwait and Jeff Garlin. WNBA MVP Elana Delle Donne, runner Dick Hoyt and his son, Rick, Real Houswives of New Jersey's Kathy Wakile, Jacqueline Laurita and Dolores Catania and the New Orleans-based folk group The Deslondes also joined us in our effort to raise funds and awareness for PMS!
Post your pics with your new shirts
Don't forget to visit the PHELAN LUCKY Facebook page to see all the great pictures and inspiring stories. We would also like to thank the team from Booster.com for all their help and support in making all of our Phelan Lucky campaigns such a success.
You should soon receive your package from Booster. This year, let's try to get some truly unique pictures of everyone #PhelanLucky all over the world. Be sure to post them to the Phelan Lucky Facebook page or tag me on your photo. Also, remember to use the #PhelanLucky and #PMSF hashtags.
Florida dad inspires legislation
that benefits PMS families
By Ashley Shattles
Chair, Legislative / Advocacy Committee
Florida Gov. Rick Scott recently signed into law a bill whose inspiration was an online petition launched by the father of a child diagnosed with Phelan-McDermid Syndrome.
The bill requires the state to provide non-waitlisted Medicaid waiver services to individuals with Phelan-McDermid Syndrome, also known as 22q13 Deletion Syndrome. More than 100,000 Floridians signed the Change.org petition started by Greg Creese, father to Avery, which highlighted the need for developmental disability services in Florida, regardless of income.
The petition gave Creese, who launched his campaign last year, the chance to meet with media and politicians to raise awareness of the need for services. Creese believes that advocating for his child and sharing his personal story led to a successful outcome for all those affected by PMS.
“Sharing about Avery put a human face to our struggles and it was the politicians who chose to specifically name PMS as a syndrome which deserves recognition and assistance from the state,” he said. “My fight was for everyone but I shared enough about PMS that it became clear people needed to help."
Susan Lomas, president of the Phelan-McDermid Syndrome Foundation and mother to Sam, said Creese’s campaign shows the power of parent advocacy. “So many single acts snowball into collective action,” she said. “Working together is powerful.”
Once legislators suggested adding PMS to the bill, Lomas worked with their staffs as well as the Agency for Persons with Disabilities (APD), which manages Florida’s Medicaid programs, to finalize the bill’s PMS and 22q13 Deletion Syndrome language.
The Phelan-McDermid Syndrome Foundation’s legislative advocacy gives a voice to children and adults with PMS. Whether at the state level or in Washington, D.C., PMSF supports initiatives that will improve the lives of those affected by PMS.
Florida’s general Medicaid bill requires the APD to provide Medicaid waiver services to those with PMS or 22q13 Deletion Syndrome without being placed on a waiting list. The waiver allows a person with developmental disabilities to live at home rather than in an institution. It also provides for personal care services, respite, day activities, consumable medical supplies (e.g., diapers), durable medical equipment (e.g., a wheelchair), therapies, environmental modifications, among other provisions.
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Mark your calendar
Make a note of these significant upcoming events.
May Mental Health Awareness Month
June Shopping online for an upcoming graduation gift? Shop iGive.com or Amazon Smiles and choose Phelan-McDermid Syndrome Foundation as your charity of choice. Find out more here
June 1 Take a few minutes to look over the valuable family support and medical information under the Resources link in the menu list on the left side of this page
June 18 Northern Ireland / Ireland Family Day. 11 a.m. Alley Cats, Coleraine and The East Strand, Portrush. ontact Rosie at firstname.lastname@example.org or 07879 436 743
June 30 Did you update your preferences in the PMS International Registry? Contact Jackie Malasky.
July 1 Did you know? Signing up to participate in the International Registry is not the same as signing up to be a member of the PMS Foundation. For the registry, go here. For Foundation membership, go here. Both are FREE!
July 20-23, 2016 PMSF International Conference, Caribe Royale Hotel and Conference Center, Orlando, Florida
September World Alzheimer's Month
Sept. 20-21 Giving Challenge, sponsored by the Community Foundation of Sarasota County, Fla. Noon to noon. Co-sponsor is the Patterson Foundation. Details to come.
Sept. 21 World Alzheimer's Day
Aug. 20 Logan's Heroes 7th Annual Cruise for 22q, Millington and Davison, Michigan. For tickets, sponsorships, donations or other event information, contact Debbie LeClaire.
October Learning Disabilities Awareness Month
Oct. 22 North East Family Gathering. 12:30-3:30 p.m. The Ark@Crawcrook, Main Road (B6317), Ryton, Tyne & Wear. Contact Gemma Smith Jibberjabba2@gmail.co.uk or 07971468599.
Nov. 7 Annie’s 7th Annual Golf Classic at Trophy Club Country Club in the Dallas-Fort Worth, Texas, area. For event information, donations or sponsorships, contact Veronica Frunzi.
Nov. 15-17 World Orphan Drug Congress Europe, Sheraton Brussel Hotel, Brussels, Belgium