Physicians: Please Answer Short CME Survey for the World Congress!

IRSF will host one education course (approximately 3 hours in length) at the World Rett Syndrome Congress in New Orleans on Sat., June 23, 2012 for the primary care physicians who care for children and adults with Rett syndrome. If enough physicians are interested in CME’s, we will pursue partnership with a medical board to offer Continuing Medical Education (CME) units for attending in person or via live web conference. Would you PLEASE ask your child’s physician to answer these very brief questions (less than 5 minutes) by Wednesday, Feb 29th.

Investigator Spotlight: Qiang Chang, PhD, University of Wisconsin-Madison

As we enter the New Year, we are pleased to continue highlighting IRSF funded investigators in our Investigator Spotlight series. For the year’s first installment, we are thrilled to feature Dr. Qiang Chang from the University of Wisconsin-Madison. Dr. Chang is an Assistant Professor in the Department of Medical Genetics and Neurology. His lab is focused on understanding the molecular mechanism of Rett syndrome and understanding the central role of MeCP2 in DNA methylation-dependent epigenetic regulation of brain development and function.

Dr. Chang received his PhD from the University of Pennsylvania in Neuroscience where he studied the development of motoneurons and neuromuscular junctions in mice in the lab of Dr. Rita Balice-Gordon. He also completed postdoctoral training in Dr. Rudolf Jaenisch’s lab at the Whitehead Institute for Biomedical Research/MIT and studied the role of BDNF in RTT disease progression. Today, Dr. Chang’s laboratory uses genetic engineering in mouse embryonic stem (mES) cells to manipulate the function of genes that play major roles in establishing and interpreting the epigenetic mark of DNA methylation in vivo, and integrates analyses at the molecular, cellular, electrophysiological, animal behavioral, and genomic levels to study these genetically engineered mice.

Read More...

7,8-dihydroxyflavone (7,8-DHF) exhibits therapeutic efficacy in a mouse model of Rett syndrome
Johnson RA, Lam M, Punzo AM, Li H, Lin BR, Ye K, Mitchell GS, Chang Q.

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Acute Intermittent Hypoxia-Induced Expression of Brain-Derived Neurotrophic Factor is Disrupted in the brainstem of MeCP2 null mice

IRSF funded investigator John Bissonnette, MD and Agnieszka Balkowiec, MD, PhD of the Oregon Health & Science University have recently published new findings on the regulation of brain-derived neurotrophic factor (BDNF) by MeCP2 in the journal Neuroscience.

BDNF is a critical protein that is essential for brain nerve cell development and the way connections are made between these cells that transfer “information” within the brain. In patients diagnosed with Rett syndrome (RTT), BDNF is decreased. Since BDNF is essential to overall brain cell development and function, it is a widely studied protein as a potential therapeutic.

Read More...

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CLINICAL TRIAL ANNOUNCEMENT:
Placebo-controlled trial of Dextromethorphan in Rett Syndrome

Location: Kennedy Krieger Institute, John’s Hopkins School of Medicine, Baltimore, MD

Dr. Sakkubai Naidu is initiating a double blinded placebo controlled clinical drug trial using dextromethorphan (DM) in Rett Syndrome (RTT), at the Pediatric Clinical Research Unit (PCRU) of the Johns Hopkins Hospital/Kennedy Krieger Institute, that is sponsored by the FDA and Johns Hopkins Institute for Clinical and Translational Research (ICTR).

It has been shown that receptors for a certain brain chemical called glutamate, in particular the NMDA type, are increased in the brain of young RTT patients (<10 years of age). This chemical and its receptors, when in excess, cause harmful over-stimulation of nerve cells in the brain, contributing in part to the seizures, behavioral problems, and learning disabilities in RTT.

Dr Naidu and her team will initiate a specific treatment using DM to counter/block the effects of this brain chemical glutamate and its receptors because of DM’s identified ability to block NMDA receptors.

This clinical trial, which is a placebo-controlled study, will randomize patients to the drug or placebo to determine the benefits of DM vs placebo on cognition, behavior, or seizures if present.

The study will last for 3 months and will be limited to MECP2 mutation-positive children, 2 years – 9.99 years of age.

For more information, please visit the clinical trials studies webpage.

Featured Angel: Jenna Rose Mickelson

Hi world! My name is Jenna Rose Mickelson. I am the daughter of Tom and Lisa Mickelson. I am the middle child sandwiched between my two incredible sisters, Amanda and Hayley. Amanda is the best big sister a girl could ever have. She has always watched out for me. When I was little, Amanda would improvise playtime so I would be fully included. With her beautiful voice, she would sing her favorite little mermaid song to me "Part of your World." She did not know, but it was my favorite too! She really made me part of her world! My favorite little sister, Hayley, has been like a big sister too. When she was a baby she seemed younger, maybe even like a twin. Mom would lay us next to each other, and we would smile and look in each other’s eyes. But as Hayley grew, so did her heart. When I was little, Hayley would come in my big bed and play with me. We would have hat parties! Amanda would join us too! As I grew up, Hayley has always been a kindhearted sister to me. I love my sisters so much! I am so fortunate to have such a loving family.

Learn more about Jenna and her family...

Fundraising and Hope Raising...

Take bold action this year and help us fight for our girls and women fighting Rett syndrome! Set your 2012 resolution NOW to get involved and take part. Every day our angels with Rett syndrome face the world with a brave face as they patiently wait for us to find treatments and a cure. IRSF has hit the ground running this year – make this the year you get active and give hope to thousands. Take part in a local IRSF Strollathon, host your own IRSF Signature Event, or create an online fundraising page! Click here for an A-Z list of easy fundraising ideas to get your office, kid’s school or your community on board with fundraising for your Rett angel! IRSF makes it easy to get involved.

Your help is our hope. Your help is their hope.

Each Month IRSF will Provide you with a Fundraising Idea!

These ideas can be used throughout the year to keep the fundraising going and keep your community involved! Many of the Fundraisers we are going to share can be put together fairly quickly and are easy to do!

Host an Online Fundraiser:

By using the FirstGiving online tool you can fundraise with just a few clicks of your mouse. Go to www.firstgiving.com/irsfcareandcure to set up your very own fundraising page. Click here for instructions on how to set up your page. FirstGiving is easy to navigate and helps you personalize your page, post to your Facebook profile, and even walks you through how to email your page to your email contacts!

Click here to download instructions.

Featured App: NHGRI Talking Glossary of Genetic Terms

Talking Glossary of Genetic Terms features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute (NHGRI).

State Facebook Pages!

Some of your Regional Representatives have created state Facebook pages! The mission of these pages is to connect the families of each state impacted by Rett syndrome in a place where many of you already are – FACEBOOK! Utilize your state’s page to chat about Rett syndrome issues, share in the excitement of IRSF events and connect with individuals near YOU.

Search for your state's page today!

The Rett Gazette

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Write a Rett Review

If you love helping us fight for a cure for Rett syndrome then tell the world! You have an exciting opportunity to help us make an even bigger impact in our community. Charity Navigator has partnered with GreatNonprofits to enable people to share their stories about nonprofits that have touched their lives!

Please help us raise visibility and support by posting a review. All reviews will be visible to potential donors and volunteers.

It only takes a few minutes! Go now!

Recent Publications

Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1pathway.

Roux JC, Zala D, Panayotis N, Borges-Correia A, Saudou F, Villard L.
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Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome.

Samaco RC, Mandel-Brehm C, McGraw CM, Shaw CA, McGill BE, Zoghbi HY.
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Article

Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations.

Farra N, Zhang WB, Pasceri P, Eubanks JH, Salter MW, Ellis J.
Abstract

Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with rett syndrome (RTT).

Brašić JR, Bibat G, Kumar A, Zhou Y, Hilton J, Yablonski ME, Dogan AS, Guevara MR, Stephane M, Johnston M, Wong DF, Naidu S.
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Article

Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EW, Saunders CJ, Minassian BA, Vincent JB.
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Article

Early intervention with psychostimulants or antidepressants to increase methyl-CpG-binding protein 2 (MeCP2) expressions: A potential therapy for Rett syndrome.

Pan CH, Tsai S.
Abstract

Rett Syndrome and Menstruation.

Hamilton A, Marshal MP, Sucato GS, Murray PJ.
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Article

Pathways to Drug Development for Autism Spectrum Disorders.

Hampson DR, Gholizadeh S, Pacey LK.
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Article

Rett syndrome: from bed to bench.

Weng SM, Bailey ME, Cobb SR.
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Article

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.

Van der Aa N, Van den Bergh M, Ponomarenko N, Verstraete L, Ceulemans B, Storm K.
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Article

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.

Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM.
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Article

Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.

Braun S, Kottwitz D, Nuber UA.
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Article

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M, Leonard H, Ravine D, Wu X
Abstract
Article

Morphological changes and oxidative damage in Rett Syndrome erythrocytes.

Ciccoli L, De Felice C, Paccagnini E, Leoncini S, Pecorelli A, Signorini C, Belmonte G, Valacchi G, Rossi M, Hayek J.
Abstract
Article

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells.

Coufal NG, Garcia-Perez JL, Peng GE, Marchetto MC, Muotri AR, Mu Y, Carson CT, Macia A, Moran JV, Gage FH.
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Article

Modulation of RhoGTPases Improves the Behavioral Phenotype and Reverses Astrocytic Deficits in a Mouse Model of Rett Syndrome.

De Filippis B, Fabbri A, Simone D, Canese R, Ricceri L, Malchiodi-Albedi F, Laviola G, Fiorentini C.
Abstract
Article

The Many Faces of MeCP2.

McGinty JF.
Abstract
Article

Respiratory Disturbances in Rett Syndrome: Don't Forget to Evaluate Upper Airway Obstruction.

Hagebeuk EE, Bijlmer RP, Koelman JH, Poll-The BT.
Abstract
Article

Cardiac symptoms of Rett syndrome.

Peng W.
Article

Molecular diagnostic dilemmas in Rett syndrome.

Zvereff V, Carpenter L, Patton D, Cabral H, Rita D, Wilson A, Anyane-Yeboa K, White L, Friedman KJ.
Abstract
Article

The Rett Syndrome Protein MeCP2 Regulates Synaptic Scaling.

Qiu Z, Sylwestrak EL, Lieberman DN, Zhang Y, Liu XY, Ghosh A.
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Article

Reflex seizures in Rett syndrome.

Roche Martínez A, Alonso Colmenero MI, Gomes Pereira A, Sanmartí Vilaplana FX, Armstrong Morón J, Pineda Marfa M.
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Article

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study.

Lotan M, Schenker R, Wine J, Downs J.
Abstract
Article

EEG analysis for estimation of duration and inter-event intervals of seizure-like events recorded in vivo from mice.

Colic S, Wither R, Eubanks JH, Zhang L, Bardakjian BL.
Abstract
Article

Altered microtubule dynamics in Mecp2-deficient astrocytes.

Nectoux J, Florian C, Delepine C, Bahi-Buisson N, Khelfaoui M, Reibel S, Chelly J, Bienvenu T.
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Article

MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder.

Liao W, Gandal MJ, Ehrlichman RS, Siegel SJ, Carlson GC.
Abstract
Article

Coil-to-Helix transitions in intrinsically disordered methyl CpG binding protein 2 (MeCP2) and its isolated domains.

Hite KC, Kalashnikova AA, Hansen JC.
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Article

MeCP2: only 100% will do.

Chao HT, Zoghbi HY.
Article

The Stress Oncoprotein LEDGF/p75 Interacts with the Methyl CpG Binding Protein MeCP2 and Influences its Transcriptional Activity.

Leoh LS, van Heertum B, de Rijck J, Filippova M, Rios-Colon L, Basu A,Martinez SR, Tungteakkhun SS, Filippov V, Christ F, De Leon M, Debyser Z, Casiano CA.
Abstract
Article

A TrkB Small Molecule Partial Agonist Rescues TrkB Phosphorylation Deficits and Improves Respiratory Function in a Mouse Model of Rett Syndrome.

Schmid DA, Yang T, Ogier M, Adams I, Mirakhur Y, Wang Q, Massa SM, Longo FM, Katz DM.
Abstract
Article

The Spirit of Giving!

Use our IRSF App, a safe, free and revolutionary approach to online giving. Every purchase and search you make online can generate money for IRSF. Please download The IRSF APP. We can now raise money from big online stores such as Amazon, Skype, EBay and thousands of others at no cost to you. Simply download the IRSF App using Firefox, Internet Explorer or Chrome and continue searching and shopping as usual. You can choose to install the app as a toolbar or as a small icon . It only takes a minute to download. If you do not like the app, it takes one click to uninstall.

Help us spread the word among your family and friends.

The Combined Federal Campaign

CFC Code Number: 11046
If you have a fair happening near you, contact the office at 1-800-818-7388 for materials.

Donations

Please send to P.O. Box 706143 Cincinnati, OH 45270-6143.

Matching Gift Program

Check if your company has a matching gift program. Send forms to lhayden@rettsyndrome.org or by fax at 513-874-2520

Mail

Please send to 4600 Devitt Drive Cincinnati, OH 45246.

“Your best is yet to come."

~ Anonymous

World Rett Syndrome CongressWebsite Launch