NF Smarty Pants

Archive for the ‘Research’ Category

Led by the Genetics Department of the University of Birmingham, researchers found that NF1 and Legius syndrome have very similar symptoms, which may lead to misdiagnosis.

• read the Journal of the American Medical Association abstract
• read an easier-to-understand article

University of Central Florida professor and researcher Cristina Fernandez-Valle has just been awarded two grants from the National Institutes of Health. Click on the first link to learn more about her from the school’s announcement.

Scientists at UCLA’s Jonsson Comprehensive Cancer Center announced that their research have determined that the tumor suppression gene PTEN plays a role in the turning of benign neurofibromas into malignant tumors. This finding allows researchers to focus on drug therapies to control the affected pathways and prevent future cancerous transformations.

Nick Folk, kicker for the Dallas Cowboys football team, is teaming up with the Children’s Tumor Foundation to raise funds and awareness. For every extra point this season, Folk will donate $25 to CTF. He will also donate $75 for every field goal. You can also get involved.

I have a correction on the Phase 2 clinical trials offered by PTC Therapeutics. Originally, I linked their PTC299 with bevacizumab because the news releases came out near each other and the descriptions of the drugs and their effects sounded similar.

PTC299 is not bevacizumab. I have corrected the original entry.

PTC299 is an orally administered drug developed by PTC Therapeutics. They are looking for people with NF2 to participate in in the next phase of clinical trials.

Bevacizumab is a cancer treatment drug. It’s meant to shrink the blood vessels going to a tumor to stop it from growing.

It was not previously tried on benign tumors because blood flow does not appear to play as big of a role in these types of growth versus the malignant ones.

Researchers tested the drug on ten people with auditory schwannomas from NF2. The tumors in nine of the patients reduced in size. Some even experienced hearing recovery.

Read more:

• Forbes
• Science Daily

President Obama’s nomination for the new Director of the National Institute of Health has strong scientific credentials and a tight connection to neurofibromatosis research.

Previously, Francis Collins lead the Human Genome Project and his work helped identify the genetic causes of neurofibromatosis, cystic fibrosis, and several other diseases and conditions.

Collins, however, is also publically known as a staunch Christian. He believes in God and God’s role in evolution.

This background is causing a lot of discussion among and between the science and religion camps. Collins’s nomination has been met with applause, confusion, and a certain amount of worry.

• Los Angeles Times
• Media Newswire
• New Scientist

PTC Therapeutics Inc. received $.82 million from the Department of Defense further their research into a drug treatment for NF2. Drug candidate PTC299 is ready to go into Phase 2 clinical trial.

From the press release:

Researchers funded by the National Institute of Neurological Disorders and Stroke (NINDS) have found that an organ transplant drug might one day be used to treat meningioma, a type of brain tumor. The drug also could be used to treat neurofibromatosis type 2, a rare disease associated with meningiomas and other benign tumors of the nervous system.

Read more at the NINDS website.