October 22, 2009

Clint and Kevin Black invite you to join them for an entire weekend devoted to Spending Time Ending Rett...

Starting October 31, 2009 IRSF and the Black Family ask for your support of the “Spending Time Ending Rett II” event taking place in The Woodlands, TX. The weekend will begin on Saturday 10/31 with the 1st Annual Houston Strollathon at Rob Fleming Park in The Woodlands. It includes a costume contest (it is Halloween, of course) and concludes with a concert by "Rett Supporter and Country Singer," Kevin Black. Grab your friends, family and neighbors and join us for a fun-filled day of fundraising, spreading awareness and strolling our way to a cure! To obtain your Strollathon materials please contact Kenna Seiler at kenna@hope-causey.com. All Rett families are invited.

The Strollathon is a family fun event – please join us as we bring families, neighbors, business associates and friends from all over together! Then on Sunday 11/1 Clint Black will be performing at Dosey Doe in The Woodlands once again this year. Please contact Dosey Doe at 281-367-3774 or Dave Clements at 713-410-6076 for ticket information. On Monday 11/2 join us on the Bentwater Golf Course in Montgomery, TX for the 6th Annual ‘Tee It Up For Rett Syndrome’ Golf tournament! To purchase your spot on the golf course CLICK HERE or contact Dave Clements at david-clements@msn.com or at 713-410-6076.

Of course this event would not be possible without the support of our corporate sponsors! To become a sponsor of this weekend long event CLICK HERE or call Dave Clements at 713-410-6076. As always your support is greatly appreciated as we keep the search strong for treatments and a cure for this devastating disorder, Rett syndrome.

Read more on Clint Black’s support of Rett syndrome.


“We invite you, your friends and family and all Rett families to spend this heartfelt weekend with us… your help is our hope…we are asking for your support.”
~ Clint, Kevin and the Black Family






2009 H1N1 Influenza Information

2009 H1N1 (sometimes called “swine flu”) is a new influenza virus causing illness in people. This new virus was first detected in people in the United States in April 2009. This virus is spreading from person-to-person worldwide, probably in much the same way that regular seasonal influenza viruses spread.

Click here to get the answers to these important questions about H1N1 and its potential risks for Rett syndrome.

GENERAL INFORMATION

SIGNS, SYMPTOMS, AND SEVERITY

HIGH RISK GROUPS AND SPECICAL CONSIDERATIONS FOR RETT SYNDROME

ANTIVIRAL TREATMENTS:

VACCINATIONS:

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IRSF is Gearing up for the 2010 Fundraising Season!

So far 2009 has been filled with Strolls, Runs, Walks, Galas, Pig Roasts, Lemonade Stands and more! October Awareness Month is booming with a mountain of Phantom Tea orders and now over 100 Care and Cure Café pages!! Because of all of YOUR fundraising efforts we are able to continue to fund the much needed research to help us find treatments and a cure for our girls. Whether you plan, host, assist or participate in a fundraising event or effort, your help is our hope – so thank you! We are now beginning to plan for 2010 and would love to hear about your ideas and plans! Some of you host annual events – if so please give the IRSF Staff a heads up as soon as possible of the date and any details you’ve already worked out so that we can best assist you and make 2010 the best year yet! Don’t forget to check out our fundraising resources page for all things fundraising. Keep checking back for sample letters to help you get your community and family and friends involved!

The IRSF Event pages and Photo Gallery are filled with stories and pictures of 2009 fundraisers all over the country so be sure to keep an eye out for that as well.

Your support is always greatly appreciated. We are here to help make your fundraising efforts as easy and rewarding as we possibly can. For more information on how to plan an event, get involved with an existing event or to just bounce around some ideas please email Jenni Grammer at jgrammer@rettsyndrome.org.



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Governor Proclamations

IRSF would like to take this opportunity to let you know that a state proclamation declaring October as Rett Syndrome Awareness Month may have been obtained in your state. Please visit our State Proclamation page of our website to get a copy of your state’s proclamation. These proclamations are meant to be used and IRSF strongly encourages you to incorporate these proclamations into your fundraising and advocacy efforts.


Read about one family's use of these State Proclamations
Governor declares focus on little known disorder



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October Awareness Month is HERE!

Hosting fundraisers and events in support of IRSF is a great way to get involved, raise awareness and help us further our mission to find treatments and a cure for Rett syndrome! If you or someone you know is hosting an event in honor of a special Rett angel please let us know – we can advertise it on our website calendar as well as in our Flashes! We can also help you design and send out your invitations, save the dates, email blasts and so much more. Please email all event details to Jenni Grammer at jgrammer@rettsyndrome.org. IRSF can offer plenty of support for your event – call the office or email us for more details!



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Friends and Family

In honor of October as Rett Syndrome Awareness Month, we are hosting our 13th annual Phantom Tea fundraiser! This year we’ve re-vamped this virtual tea party and made it even easier for your friends and family to become involved! We also have our online Care and Cure Café where parents can share online toasts to their daughters and where friends and family can donate “drinks” to Rett angels all over the country that will help IRSF continue to fulfill IRSF’s mission for families affected by RTT.



2009 Phantom Tea

IRSF Care & Cure Café


Please contact jgrammer@rettsyndrome.org or call 1-800-818-RETT with the correct email address to ensure that you receive the invitation to the Care and Cure Café.



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October Awareness Month: Top 10 Ideas and Tips

Top 10 lists, and downloadable helpful materials are all available on the IRSF web site.



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Avon Sales Support IRSF

During the month of October, For every purchase made at my AVON online store, 30% of the sales will be donated to IRSF.

Visit the store and click on the "online events" tab. Use the coupon code "IRSF2009" in order for IRSF to automatically receive the 30%!



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Please Update Your Contact Information with IRSF

If you have moved or simply changed email addresses or phone numbers, please contact IRSF in order to update our records.

We have numerous incorrect email addresses, home addresses and phone numbers in the database. We want to be able to inform you all of Rett research, news, family gatherings, fundraisers, etc...

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



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Manual del síndrome de RETT

The Rett Syndrome Handbook 2nd Edition is in the process of being translated into Spanish. We want everyone to have access to this amazing resource so we have published as much of the handbook that is currently translated on our website.
El Manual del Síndrome de Rett es una extraordinaria e imprescindible obra de consulta para todas las personas relacionadas con la enfermedad. La Primera Edición concuerda casi al 100% con la edición original americana.
Capítulos del Manual Síndrome de Rett



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2008 Annual Report Available Online

The Annual Report for 2008 is complete and available for your viewing on our website. Please check it out and be sure to use it when contacting your media sources for stories on Rett syndrome.



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Regional Representative Program

Reach out and meet your Regional Rep today!

Make sure your Rep has you on his/her list so you can be informed of family gatherings and fundraisers. Each IRSF Rep very much wants to get to know ALL families! Please contact Jennifer Endres if you have trouble connecting with your Rep or if you have questions about the program.



List of Regional Reps

Would you like to become a part of the Regional Rep Team?

There are still a few states that do not have representatives. Help IRSF grow the Regional Representative Program by volunteering to be a pillar of support for Rett families in your state. Please contact Jennifer Endres at jendres@rettsyndrome.org for more information and details. The following states remain in need of a Rep:

  • Alaska

  • Arkansas

  • Montana

  • New Mexico

  • Nebraska

  • North Dakota

  • South Dakota

  • Vermont

  • Wisconsin

  • Wyoming



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IRSF Introduces the Parents of Males with MECP2 Mutations Network

The Parents of Males with MECP2 Mutations Network will provide the support needed to understand and overcome the unique obstacles having a male child with Rett syndrome brings to a family and in turn the members of the this network will help their family understand and overcome as well.

The Parents of Males with MECP2 Mutations Network will:

  • Address the specific concerns of these unique parents, which are often different from those of parents with daughter 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 specific to males with MECP2 mutations

  • Provide a forum to exchange experiences and ideas

  • Create a Network Directory

  • Expand sessions offered for parents of males with MECP2 mutations at the annual Conference

  • Enlist willing parents of males with MECP2 mutations in building awareness of Rett syndrome within their various communities

  • Dedicate one section of Rett Gazette newsletter to the Parents of Males with MECP2 Mutations Network

  • Build relationships between the members of this core group and IRSF

  • Provide appropriate avenues for raising funds to support IRSF’s mission


Join today!
Visit the Parents of Males with MECP2 Mutations Network and get involved today! Once you register you will receive an email welcoming you! You can become as active as you wish!

Questions?
Contact Jennifer Endres at jendres@rettsyndrome.org or call 508-362-2220



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Join one of our other support networks!

The Dads Network
The Grandparents Network



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Road Scholar Transport

As you know, IRSF has been participating in the 10,000,000 miles to a cure campaign. Will you help us thank Jim Barrett, founder of the Road Scholar program? Please email messages of appreciation to Lisa Hayden at lhayden@rettsyndrome.org.

Road Scholar Transport’s customers are actively sponsoring a “charity truck” and for every mile that truck drives they make a donation to the charity.

Get involved. Make a difference. VOTE NOW!
www.roadscholar.com/charities.html



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IRSF Family Advisory Board - APPLY NOW!

We encourage interested family members to apply for the IRSF Family Advisory Board by November 14, 2009.

Make a difference for all families touched by Rett syndrome! The IRSF Family Advisory Board is comprised of 15 active, passionate members who bring personal and professional talents and skills to the table to help advise IRSF on Family Support programs and services. We seek family members (mothers, fathers, grandparents, aunts, uncles, adult siblings, etc) who especially have expertise within the following areas:

  • An individual with RTT: young child, school-age child, teen, young adult, older woman, or an individual with RTT who has passed away

  • Family make-up: Married, single, divorced, remarried, or adopted child

  • Therapies: especially OT, PT, Speech/Communication, Nutrition, Marital/Family

  • Medical

  • Residential Placement

  • Special needs law

  • Support services

  • Advocacy

  • Public relations, media reporting

  • Fundraising

  • Programs/services/materials development and copywriting


Click here for more details and to download an application.

Consider - then apply - deadline is November 14, 2009.



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IRSF Family Conference

Announcing 26th Annual Conference Location

"Ain’t No Mountain High Enough"
Cheyenne Mountain Resort
Colorado Springs, CO
Memorial Day Weekend
May 28-31, 2010
Mark your calendars – make your plan!


Who: Every person touched by Rett syndrome - parents, caregivers, professionals.
Why: Invest in yourself – one of the best things you can do for the child or adult in your life with RTT is to educate yourself about the syndrome and the pathways to treatments and a cure.
What: Knowledgeable, respected Rett experts brought together under one roof, for one weekend, dozens of unique sessions – all for you! Unparalleled sessions on research progress, communication, education, life planning issues, medical care, fundraising how-to workshops, marriage/family strengthening workshops, exhibitors and hands-on demos. And the most priceless gift of all: building community, friendship and learning from each other.

Registration will open online January 2010.

Conference Financial Planning Tip:
  1. Some company Flexible Spending Accounts (FSAs) will reimburse for registration fees, and possibly travel expenses, for education conferences on a diagnosed medical condition with a doctor’s prescription. Most 2010 Benefits and FSA enrollment periods open soon – see if you can take advantage of this opportunity by calling your company’s benefits administration department today!
  2. Some support agencies understand the life-changing importance of educating parents and caregivers about their child’s diagnosis. Contact your child’s case manager or social worker to ask what expenses could possibly be covered: registration fees, travel, session recordings, or additional respite hours.
  3. Contact local service organizations such as Lion’s Club or Kiwanis International for their sponsorship or support.


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IRSF Transitioning to New Online Store!

IRSF is currently transitioning to a new online store. In the interim, feel free to browse our online catalog here. Please call the office to place an order at 1-800-818-7388 or 513-874-3020.



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Doctors Honored at 2009 Blue Bird Circle Gala The Night Nest

HOUSTON--(BUSINESS WIRE)--Dr. Daniel Glaze, Dr. Jeffery Noebels, and Dr. Robert Zeller will be honored by The Blue Bird Circle on Thursday, November 12, 2009 for their outstanding contributions in the field of pediatric neurology. The gala this year will be at the Junior League of Houston, and will begin at 7:00 pm with a cocktail reception followed by dinner, dancing, and entertainment. The evening also includes the opportunity to bid on fabulous items donated by companies such as Neiman Marcus, David Yurman, St. John, Aztec Events & Tents, and many others.

Gala attendees will be entertained by the Richard Brown Orchestra with singers Sharon Montgomery, Bob Luna, and Tommie Lee Bradley.

All proceeds from the event are used to support the philanthropic activities of The Blue Bird Circle, including The Blue Bird Circle Clinic for Pediatric Neurology at Texas Children’s Hospital, The Blue Bird Circle Developmental Neurogenetics Laboratory at Baylor College of Medicine, and The Blue Bird Circle Rett Center. In the past 10 years, the Circle has contributed over $10,000,000.00 to their work.

Daniel G. Glaze, M.D. is Professor of Pediatrics and Neurology at Baylor College of Medicine and is Medical Director of The Blue Bird Circle Rett Center and Medical Director of the Children’s Sleep Center at Texas Children’s Hospital. The Rett Center is one of the few facilities in the United States that specializes in the diagnosis and care of girls and women with Rett Syndrome.



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NIH Announces Expansion Of Rare Diseases Clinical Research Network

BETHESDA, Md., Oct. 5, 2009--The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia. The Rare Diseases Clinical Research Consortia and a Data Management Coordinating Center (DMCC) will be awarded a total of just over $117 million over the next five years. The research conducted with the new funding will explore the natural history, epidemiology, diagnosis, and treatment of more than 95 rare diseases.

"The progress made by researchers through the network over the past six years is important and impressive," said NIH Director Francis S. Collins, M.D., Ph.D. "We have shown that this approach can be a catalyst for progress in meeting the challenge of rare diseases, and we are eager to launch this next phase of the program."

A rare disease is defined as a disease or condition affecting fewer than 200,000 persons in the United States. Approximately 6,500 such disorders have been identified, affecting an estimated 25 million Americans.

Initially created in 2003, the RDCRN is unique in its approach to addressing rare diseases as a group. Previously, the NIH's institutes and centers funded research on individual rare diseases in their respective disease-type or organ domains. The RDCRN is the first program that aims to create a specialized infrastructure to support rare diseases research.



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Governor declares focus on little known disorder

Autauga County is home to three girls with Rett Syndrome

When Gov. Bob Riley signed a proclamation recently designating October as Rett Syndrome month in the state of Alabama, a local family saw the result of much time and effort in trying to get the word out about the neurological disorder they have been dealing with for years.

Sheryl Hand is the mother of 17-year-old Angela Hand, who was diagnosed with Rett Syndrome when she was very young. Hand is one of three girls currently diagnosed with Rett syndrome in Autauga County.



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International Rett Syndrome Foundation Awards $2M for Cutting-Edge Rett Syndrome Research

Foundation announces new funding mechanisms to fast-track therapies

(Cincinnati, Ohio) The International Rett Syndrome Foundation (IRSF) announced today that it is awarding grants totaling $2 million to support 18 innovative research projects in 2009. Each project will explore bold new ideas that have the potential to drive the field forward and speed the translation of research into treatments and a cure for Rett syndrome. With this announcement, the foundation has cumulatively funded over $20M in high quality, peer-reviewed grants that have contributed to the most significant advancements in the field to date.

Follow this link to read about to new grant mechanisms focused directly on translational research which IRSF will provide funding.



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Review of two recent CDKL5 mutation papers –By: John Christodoulou

Since the discovery in 2004 that mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene may be associated with a phenotype that overlaps with Rett syndrome (RTT), there has been considerable activity in screening RTT and other patient cohorts for mutations in this gene. These two papers have added to our understanding of the phenotypes associated with CDKL5 mutations.



1: Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C.
Clin Genet. 2009 Oct;76(4):357-71.
PMID: 19793311 [PubMed - in process]

Related Articles

In this paper from a French collaborative group, 11 de novo CDKL5 mutations were identified in a large (177) patient cohort with early onset seizures, including one with a large deletion involving the first 3 exons (coding segments) and part of the upstream controlling (5’ UTR) region of the gene. The important points that can be gleaned from this paper include:
  1. Individuals with Aicardi syndrome (infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae) are unlikely to have CDKL5 mutations
  2. A feature common to CDKL5 mutation positive females is severe infantile onset seizures that are often refractory to anticonvulsant therapies (found in 8% of this cohort, and interestingly up to 28% in those who have an onset of infantile spasms under the age of 3 months).
  3. Whilst these individuals had features that overlapped with RTT (eg hand stereotypies, acquired microcephaly, impaired social contact, loss or absence of purposeful hand movements, and absence of speech), in contrast to RTT patients they show poor eye contact.


2: Xp22.3 Genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.
Epilepsia. 2009 Sep 22. [Epub ahead of print]
PMID: 19780792 [PubMed - as supplied by publisher]

Related Articles

In this paper, the collaborative effort of a number of Italian research groups, the specific focus was CDKL5 screening in girls with epileptic encephalopathy (where the epilepsy is of such a severe nature that the epilepsy itself leads to a progressive deterioration of brain function), including specific screening for the frequency of large rearrangements of the CDKL5 gene using a molecular technique called multiplex ligation-dependent analysis (MLPA), followed by other confirmatory testing. They studied 49 females who had an onset of seizures within the first 6 months of age, who exhibited developmental stagnation following the onset of seizures. They found four novel small mutations and four large deletions, several of which were so large that the deletion encompassed multiple genes. As was seen in the report by Nemos and colleagues, there were some clinical features that overlapped with RTT, but these individuals also had poor eye contact, and importantly, all normal MRI scans of the brain. Overall, they found that some 16% of their cohort of patients with epileptic encephalopathy had CDKL5 mutations.

Together, these papers highlight the importance of CDKL5 mutations in phenotypes that share some overlap with RTT, with it now being clear that the epileptic encephalopathy phenotype is the emerging predominant clinical picture associated with CDKL5 mutations. It is important to note that to date there have been no reports of CDKL5 mutations in females with classical RTT, and so it appears that screening the CDKL5 gene in the 5% or so of classical RTT patients with no MECP2 mutation will be a low yield diagnostic exercise.



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Obama announces $5 billion for new medical research

WASHINGTON (Reuters) – President Barack Obama announced a plan on Wednesday to spend $5 billion on medical and scientific research, medical supplies and upgrading laboratory capacity, which he said would create tens of thousands of new jobs.

The funds, to come from the $787 billion economic stimulus package, will pay for "cutting-edge medical research in every state across America," the White House said.

One billion dollars will go to research into the genetic causes of cancer and potential targeted treatments. Obama also promised a large infusion of funds into research on autism, which affects an estimated 1 in 150 U.S. children.



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Map of epigenome could help shed light on genomic function

U.S. scientists said they were able to map the epigenome, the genome's network of chemical switches that plays a role in stimulating human genes, and compare the epigenomes of embryonic stem cells and fibroblasts using the latest technologies. "Being able to study the epigenome in its entirety will lead to a better understanding of how genome function is regulated in health and disease, but also how gene expression is influenced by the environment," the lead researcher said.
The Independent (London) (10/15) [Source: Biotechnology Industry Association]



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New York City fund to support biomedical research

The New York City Investment Fund partnered with the city's Economic Development Corp. to form the Translational Research Fund, an initiative to help scientists form startups that would commercialize their biomedical inventions. As part of the $5 million program, a competition will choose as many as five researchers to receive as much as $250,000 in grants and mentoring from bioscience entrepreneurs.
Crain's New York Business (10/15) [Source: Biotechnology Industry Association]



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