Hard to identify and relatively obscure, mitochondrial disease — of which there are more than 40 known varieties — is a primarily genetic, incurable disorder.
Four years ago, my newborn son, Leo, was given a diagnosis of a very rare and incurable disorder known as Ondine's Curse.
In the near term the NEK1 gene variant, described in the journal Nature Genetics this week, will help scientists understand how the incurable disorder, known also as Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig's disease, takes hold.
The recessive dystrophic form of the incurable disorder that Lucy had is caused by a lack of collagen protein and causes skin and internal body linings to blister at the slightest knock or rub.
I have known since 1972 that I am clean for Tay-Sachs, but the Counsyl screen showed that I carry one copy of a gene for familial dysautonomia, an incurable disorder of the autonomic nervous system that causes a number of unpleasant symptoms and a high chance of premature death.
Only people with mutations in both copies of the same gene develop the incurable disorder.
Stressful life events trigger the chronic, incurable disorder (symbolized with the ball rolling from the healthy into a new (diseased) regime once a stress threshold has been passed).
A better understanding of the pathogenesis of this incurable disorder will help to better target and design effective therapy in the future.
Despite the recent introduction of many therapeutic regimens, CLL is still an incurable disorder.
