Featured Family Fundraiser: Katz Family Climb Mount Kilimanjaro

Each Flash, we will begin highlighting one of our great Family Fundraising Events. These events raise a significant amount of money every year and play a major role in advancing the IRSF research program. IRSF wants to celebrate the work and effort of our families and friends. Thank you to all who raise money through these or through your participation in an IRSF signature event!

We are honored to recognize the Katz family: Tori (13), Abigail (15), Jillian (17) and Laura (mom) who climbed Mount Kilimanjaro in Africa in June to raise money and awareness for IRSF and Rett syndrome. While these ladies do not have a family member with Rett syndrome, they are close friends with Jessie Lebson, a teen in New York living with Rett. This was actually the second climb for Jillian and Laura. Thank you to the Katz family for raising over $70,000 to date for IRSF! You may still contribute the Katz’s 2012 effort through their fundraising page.

Do you want to fundraise and you’re not sure where to start? Start with what you, your family and friends already enjoy doing – you can add a fundraising component to almost anything. Still not sure? Check out this great list of fundraising ideas.

2012 Strollathon: Stroll & Roll for Rett Syndrome

It is the middle of summer and everyone’s mind drifts to thoughts of school break, vacations, and maybe even back to school. It’s also a great time to think about fundraising and your local Strollathon!

We want to send a big SHOUT OUT to our fantastic Alabama volunteers, led by Susan Lee, in advance of our 1st Annual Alabama Strollathon on Saturday, August 4th! They are kicking off our Fall Strollathon season in style. Families and friends will be treated to live music from Jason Ashley, face painting, balloon animals and magic, great food and more. It’s not too late to sign up if you will be in the area or if you want fundraise as a virtual participant.

Check out our full list of Fall Strollathons with links to register and fundraise!

Investigator Spotlight: Huda Y. Zoghbi, MD, Howard Hughes Medical Institute, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and Baylor College of Medicine

It is hard to believe that the 7th World Rett Syndrome Congress has come and gone with great success! Now with summer upon us, IRSF continues to move the spotlight to the committed scientists who have made the World Congress an impressive, high quality meeting with outstanding presentations and discussions. This month we are honored to focus on Dr. Huda Zoghbi who had co-chaired the Basic Research Symposium at the World Congress along with Dr. Gail Mandel. Together, they had produced an exciting lineup of speakers who were encouraged to present new, unpublished data in an effort to foster new ideas that will help chart the course for Rett syndrome research.

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Charting the Course for Rett Syndrome – World Congress 2012

Just a short month ago, over 500 people from over 20 countries convened in New Orleans to face the future and Chart the Course forward for Rett Syndrome research and care. IRSF was pleased to host this exceptional event with the support of worldwide partners, organizers, sponsors, speakers, and exhibitors. It was quite magical to have such incredible and transformative discussions and debates happening under one roof and at every turn amongst the scientists, researchers, families, and clinicians who care so much about Rett syndrome, MECP2 and CDKL5 disorders. Friendships were made, personal and professional relationships advanced, and the course forward has been fueled thanks to everyone’s concerted efforts.

We hope these materials will allow you to experience or revisit some of the World Rett Syndrome Congress highlights.

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NEW! RTT-specific Growth Charts

Rett Syndrome Growth Analysis
Alan Percy, MD

I am pleased to announce that the growth analysis emanating from the Natural History Study has been accepted for publication in the journal, Neurology. It should appear in paper form later this year, but will be published online in the near future. The full citation will include the following: Tarquinio D, Motil K, Hou W, Lee H, Glaze DG, Skinner SA, Neul JL, Annese F, McNair L, Barrish JO, Geerts SP, Lane JB, Percy AK. Growth Failure in Rett Syndrome: Specific Growth References. Neurology in press, 2012.

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Exhausted Your Summer Reading List?

Wish to exercise your brain on some interesting books that offer broad perspective to our intense personal interest in Rett Syndrome science and research? Pick up these recommendations from IRSF’s Steve Kaminsky, Chief Science Officer, and Paige Nues, Family Support Director:

This book tells the fascinating story of gene therapy: how it works, the science behind it, how patients (mostly children) have been helped and harmed, and how scientists learned from each trial to get one step closer to its immense promise, the promise of a "forever fix," - a cure.

The author reveals the various levels of the brain, from the atom to the mind, and explores what happens when workings at each level go awry. Zeman requires of his readers no special knowledge of medicine or science, yet he takes us to the very frontiers of current scientific knowledge and elucidates the workings of the brain in astonishing detail.

"Connectome" tells the incredible story of how Seung and a dedicated group of researchers are mapping connections between our brain cells, neuron by neuron, synapse by synapse, to uncover the basis of personality, identity, intelligence and memory, and explain mental disorders such as autism, depression and schizophrenia.

Note: IRSF did not receive compensation from authors, publishing houses, Amazon or any funder for highlighting these books. We merely think they are great reading for the inquiring mind.

Have other books like this that you would recommend? Please share on the IRSF Facebook page!

Please Welcome IRSF’s NEW Staff Member:
Eva Dillon, Director of Individual Giving!

Eva Dillon recently joined the IRSF staff as the Director of Individual Giving. Eva came to IRSF from Hostelling International USA, where she successfully ran the first national capital campaign. Eva is a Certified Fund Raising Executive with 15 years of experience working for nonprofits in the United States and Europe. Eva looks forward to working to raise significant funds to support the families touched by Rett syndrome as well as the research leading to treatments and a cure.