Affymetrix claims genetic breakthroughs
Affymetrix Inc. claims that a medical clinic in Pennsylvania using its technology has discovered the genetic causes of disease at an unprecedented pace -- more than a half dozen diseases in the past 12 months.
In last month's early on-line issue of American Journal of Medical Genetics, a small group of physicians in a corner of Pennsylvania Dutch country using Affymetrix GeneChip microarrays, reported their most recent discovery: a mutated gene causing a mysterious developmental disorder in the Mennonite population.
The non-profit, community-supported Clinic for Special Children -- part of their budget comes from their annual quilt sale -- was started nearly 20 years ago to try to find treatments for a variety of rare genetic diseases that have long afflicted children in Plain sect communities, such as the Amish.
In just the past year though, using a new GeneChip microarray technology from Santa Clara-based Affymetrix (NASDAQ:AFFX), Morton and colleagues have made breakthrough discoveries for genetic causes of at least six different diseases. While these scientists are studying diseases far more common in the Plain sects, Affymetrix said their findings provide the basis for genetic tests of rare diseases in the general population.
Using Affymetrix technology, the clinic made discoveries in the following diseases:
A mutation that causes Salla disease in the Finnish population.
Cortical Dysplasia and Focal Epilepsy.
"Pretzel" syndrome (a previously undescribed disorder characterized by skeletal deformity, malformation of the brain, electrolyte imbalances, and variable malformations of the heart and other organs.
Down Syndrome, Patau Syndrome and other chromosomal disorders.
Sudden Infant Death with Dysgenesis of the Testes (SIDDT).
Affymetrix scientists invented the world's first microarray in 1989 and began selling commercial microarrays in 1994.
Affymetrix employs 900 nationally and reported total revenue of $364 million in 2004 with net income of $48 million.