BETHESDA, Md., Sept.14, 2016
BETHESDA, Md., Sept.14, 2016 /PRNewswire-iReach/ -- Promising new research from scientists studying rare seizure disorders may ultimately lead to targeted drugs for potentially fatal neurological diseases in the same way that doctors are now using specially designed molecules to defeat cancer.
This study along with other research and clinical findings on tumor related epilepsy will be presented at an international symposium in London on September 16-17, 2016. The meeting is co-sponsored by the Hope for Hypothalamic Hamartomas Foundation (www.hopeforhh.org) and the University College London.
A possible solution to these diseases lies in understanding mysterious brain changes that aren't hereditary. For unknown reasons errant genetic switches are flipped in a vital bundle of nerves called a pathway while the brain is developing. These so-called somatic gene variations happen soon after conception triggering a cascade of pathological events.
"What's getting clear now is that these new mutations…are increasingly important, and when you find them you can tell the patient, why did I get this," says neurologist Sam Berkovic, an Australian epilepsy specialist at the University of Melbourne and Austin Health.
Berkovic and his colleagues at Columbia University and the Barrow Neurological Institute, Phoenix, compared brain tissue to blood samples in a small group of severe epilepsy patients with brain tumors known as hypothalamic hamartomas (HH).
The researchers found a handful of genetic changes present in the hamartoma tissue that didn't show up in blood, meaning they weren't inherited but occurred after fertilization, sometime in the early embryo. The study results were published in the August 4th issue of The American Journal of Human Genetics.
Typically epilepsy in patients with HH is resistant to conventional treatment. However, targeted drugs delivered in the early stages of brain development could change that.
"We're hopeful that this might be a way to make new treatment strategies in the future," says Berkovic.
Among the research presentations at the symposium: The latest use of brain-imaging tools to identify and map hypothalamic tumors more accurately. On the treatment side, doctors will discuss precision techniques like stereotactic laser ablation and focused ultrasound that may reduce the need for more invasive surgical interventions.
"There are surgical treatments available, but they carry the risk of potentially severe side effects. The new techniques are promising and appear to be safer", says meeting chair Helen Cross, MD, an epilepsy specialist at the University College London.
There's also good news in disease management as doctors are finding better ways of controlling many of the debilitating neurologic and behavioral symptoms of HH.
The symposium will culminate with an action agenda aiming at a new set of diagnostic and treatment guidelines. Much of the suffering associated with HH results from misdiagnosis that harms patients and frustrates their loved ones desperately seeking a cure. In fact, patient advocacy has inspired doctors all over the world to take on the HH challenge. The London symposium is the realization of the effort.
"This meeting is about hope in every respect: Hope that our London meeting will inspire bigger conversations, broader understanding and better treatments. Hope that we as parents can drive an even more powerful agenda on behalf of our courageous children. Now more than ever we have real hope," says Ilene Penn Miller, co-founder of the Hope for Hypothalamic Hamartomas Foundation.
Hope for Hypothalamic Hamartomas --(Hope for HH)-- is a volunteer-based nonprofit organization founded by parents of children with hypothalamic hamartomas (HH). It's headquartered in Bethesda, Md.
Ilene Penn Miller
Media Contact: Jeff Levine, JBL Media, 301-802-9599, firstname.lastname@example.org
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SOURCE Hope for Hypothalamic Hamartomas FoundationPR Newswire
Last updated on: 14/09/2016
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