Imagine, if you will, your child living with unrelenting pain: beset by paralyzing migraines two out of three days, suffering from unpredictable bouts of ataxia (loss of bodily control) and vertigo.
Worse yet, doctors have no idea what is causing the symptoms, and there are few effective treatments to ease the symptoms.
A mother doesnt like to see her child suffer like this, says Nathalie Corneau, after stoically describing her daughter Marie-ves nightmarish odyssey.
You feel so powerless.
The six-year-old has been poked and prodded and studied by all manner of specialists, from pediatricians to neurogeneticists.
Their best guess having eliminated every other possibility is that the little girl is suffering from a rare neurological disorder, one whose genetic cause has not yet been discovered.
Corneau says that, over the years, she and her spouse have become accustomed to the questioning looks from doctors who just cant figure out what the hell is going on.
But for Marie-ve and her mom there is now a small glimmer of hope a new international collaboration called PhenomeCentral that will see scientists and clinicians worldwide share information in a bid to speed the discovery of genes responsible for rare disorders.
Marie-ve will have her entire genome sequenced (22,000 genes) and entered into a database, along with her clinical data. If another child with a similar constellation of symptoms is discovered, their genomes will be compared in a bid to find the genetic mutation(s) responsible for the disorder.
If you have a single child with a rare condition, youre powerless to understand the cause, says Dr. Kim Boycott, a geneticist and senior scientist at the Childrens Hospital of Eastern Ontario in Ottawa. But once you have a second or a third to compare, that gives us a chance for a match, for an answer.
Originally posted here:
A glimmer of hope for people with rare gene disorders