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House and Senate negotiators have agreed to include $12.8 million for NF research in
the 2012 Department of Defense budget. While this represents a cut from last year’s
funding level of $16 million, even more drastic reductions to NF research had been
feared.

George Orfanakos, President of the Children’s Tumor Foundation, praised NF
advocates for making their voices heard in Washington, particularly during the past two
months of budget negotiations.

“Only a full-court press from the NF community prevented further erosion of government
funding for a program that is critical to developing viable treatments for those with NF,”
he said.

The NF research funding has been included in the broader appropriations bill that is
being sent to President Obama for signature.

Schwannomatosis is the rarest form of neurofibromatosis (NF), affecting an estimated 1:40,000 people, and it causes tumors to grow on peripheral nerves as well as severe and unmanageable pain.  It has also been the most mysterious form of NF, both in terms of accurate clinical diagnosis and in terms of understanding its biology and genetics.

In 2005, the Children's Tumor Foundation spearheaded the publication of the first diagnostic criteria for schwannomatosis.  In those initial critieria, it was stated that if a person had one or two vestibular schwannomas  (tumors on the 8th cranial nerve in the brain) then this would exclude a diagnosis of schwannomatosis and indicate a diagnosis of NF2.  In 2007,  the first candidate gene for schwannomatosis - INI1/SmarcB1/Snf5 - was identified, and though this gene does not appear to be universally involved in all cases of schwannomatosis, it has aided in the diagnosis of the disorder and in researching its molecular basis. 

Now a team led by Dr. D. Gareth Evans (University of Manchester) reports in the American Journal of Medical Genetics on two people each presenting with a unilateral (single) vestibular tumor as well as peripheral nerve tumors but for whom a diagnosis of NF2 has been eliminated through clinical or genetic evaluation.  This is an important finding, and suggests that there may be other cases elsewhere that have previously been diagnosed as NF2 that are in fact schwannomatosis.

The Children's Tumor Foundation has made significant contributions to advancing schwannomatosis research through grant funding, including establishing the first Schwannomatosis International Database, as well as organizing a series of International Schwannomatosis Workshops to spur collaboration.  In December, we'll be announcing some newly funded schwannomatosis research projects and unveiling future plans for our continued commitment to advancing this research area.

We are delighted to announce that the report from the Children's Tumor Foundation 2011 Neurofibromatosis Conference has been published in the November 16th issue of the scientific journal Acta Neuropathologica. 
Held in Jackson Hole, WY in June, the 2011 NF Conference was our biggest to date attracting over 300 international NF researchers and clinicians.  We thank the Conference Co-Chairs Dr. Nancy Ratner (Cincinnati Children's Hospital Medical Center) and Dr. Michel Kalamarides (Hopital Beaujon, Paris) for their leadership in both the Conference and the publication.
This marks the third year in a row for publishing the NF Conference report in a scientific journal. The 2009 and 2010 NF Conference reports were published in the American Journal of Medical Genetics. The goal of these publications is to inform and update the broader research and clinical community on the exciting progress being made in NF research and to encourage more persons to focus on NF research.
The 2012 NF Conference takes place June 9-12, 2012 in New Orleans, LA. Look for more announcements soon!

The neurofibromatosis clinical team at the Cincinnati Children's Hospital Medical Center is conducting a research survey to find out if people with neurofibromatosis type 1 (NF1) break their bones more often and have different types of broken bones (fractures) than those who do not have NF1. Adults 40-70 years old with NF1 and their spouses and/or siblings who do not have NF1 may be eligible to participate. The information learned from this research study may indirectly benefit other patients with NF1 in the future by providing a better understanding of NF1-associated bone disease.  

This study consists of completing a survey that is estimated to take a total of 20 minutes and contains questions about participants’ fracture history, physical activity, and diet.

For more information on the study, click here.  

As many of you know, the primary federal support for NF research comes from the Congressionally Directed Medical Research Program (CDMRP) at the Department of Defense.  NF has been supported through this program since 1996, and this funding has been critical to the great strides we have made in NF research. With CDMRP funds, researchers have been able to:

- Identify the major functions of the NF genes in both their normal and mutated states.

- Develop sophisticated animal models which are now used for pre-clinical drug testing. 

- Create the NF Clinical Trials Consortium, the first forum for NF clinical researchers to truly collaborate on clinical trials.

- BEGIN TESTING DRUGS!  

All of this work over the years has allowed the CDMRP to begin focusing on clinical trials.  The Clinical Trials Consortium, which was established by this program in 2006, is the most important part of this program.

Increasing pressures on the defense budget are resulting in cuts to various programs, and we need your help in sending the message to Congress that federal funding for NF research should continue at a robust level. This is more important now than ever before.  The FY2012 Defense Appropriations Bill passed by the House of Representatives earlier this year included $12.8 million for NF research. The Senate did not provide this level of funding in its version of the bill.  We need your help in requesting that Congress retain the House-passed funding level for the NF CDMRP when House and Senate leaders meet to negotiate the differences in their two bills. Time is of the essence - please write your Member of Congress today!  A template letter of support is included on this page to help make this easy. 

We are at a critical stage for NF research.  CDMRP funding has brought NF research to the commencement of clinical trials, and continued funding will allow new drugs to be tested through the Clinical Trials Consortium, helping us move closer to the goal of therapies for NF and conditions related to this debilitating disorder.  Thank you for your continued support and for reaching out to Congress in support of federal NF research funding!