NF Smarty Pants

Archive for the ‘Research’ Category

As NF Awareness Month enters into its final week, why not check out what clinical trials are going out there?

Dutch scientists have developed a way to find microdeletions in DNA sequences. Their study, published in the journal Human Reproduction, specifically names NF1 predisposition as one of the conditions that their technique can discover in embryos. Read more at the following links:

• the press release
• MedPage Today
• The Great Beyond

The Study of the Natural History of Neurofibromatosis Type 1 from the NCI Center for Cancer Research is seeking participants. From the study’s description:

To expand our understanding of NF1, researchers are conducting a long-term study of children and adults with the condition and their healthy siblings. They hope that by studying patients and siblings over time they can learn how the disease progresses and how to better detect and treat its symptoms.

Researchers at the Washington University School of Medicine announced that they have made inroads into answering the question of why brain tumors grow in certain regions and not in others.

NF, Inc. Midwest director Diana Haberkamp will travel to Washington DC on February 9th to meet with a number of Congressional members to advocate for NF research funding. She hopes to be able to hand deliver letters of support from their constituents.

If you live in Illinois, please consider providing her with your letter of support. You may download the following two Senatorial letters below. Then, replace the information at the bottom with your own name and address.

Send them to Diana by email (diana[at]nfmidwest.org) or fax (630-932-8119).

• Letter addressed to Senator Dick Durbin (Word doc)
• Letter addressed to Senator Roland Burris (Word doc)

To find your Representative, enter your zip code at this website. Simply change the appropriate information in one of the Senatorial letters to create your new one.

The content for these letters were pulled from the one provided by NF, Inc.

From an Indiana University School of Medicine press release:

Gleevec holds potential as first drug to successfully treat neurofibromatosis

Researchers at the Indiana University School of Medicine report that the anti-cancer drug Gleevec holds out promise to become the first effective treatment for neurofibromatosis, a genetic disease that has resisted treatments until now.

As a reminder, for an easy way to see what types of clinical trials are currently in progress, you can visit the website of the National Institutes of Health.

Researchers from Rice University announced that they believe they have uncovered a crucial root to epilepsy, autism, schizophrenia, and other neurological disorders. Initially, they were researching neurofibromatosis before making this inadvertent discovery.

Through mouse models, Dr. Alcino Silva and his team of researchers have discovered that a neurotransmitter, GABA, exists in excess for those with NF. GABA is an inhibitory neurotransmitter. It decreased the plasticity of neurons.

Through drug treatments, Dr. Silva was able to reverse the learning deficiencies within mice with NF.

You can read more on his study at:

• American Association for the Advancement of Science
• original press release

The following are excerpts from an October 30 NIH press release. To read the entire statement, please click here.

Researchers studying neurofibromatosis type 1 — a rare disease in which tumors grow within nerves — have found that the tumors are triggered by crosstalk between cells in the nerves and cells in the blood. The researchers, who were funded by the National Institutes of Health (NIH) and the Department of Defense (DOD), also found that a drug on the market for treating certain kinds of blood cancer curbs tumor growth in a mouse model of neurofibromatosis type 1. A clinical trial of the drug is underway in people with the disease.

Combined with previous findings, the new study suggests that the formation of plexiform neurofibromas requires two steps: complete loss of NF1 in Schwann cells (rendering them NF1 -/-) and an interaction between NF1 -/- Schwann cells and NF1+/- mast cells. While Schwann cells appear to be the primary tumor causing cell, mast cells appear to stimulate tumor growth by recruiting other cell types and blood vessels to the tumor.