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5 December 2013 11:26 am ,
Vol. 342 ,
Dyslexia, a learning disability that hinders reading, hasn't been associated with deficits in vision, hearing, or...
Exotic, elusive, and dangerous, snakes have fascinated humankind for millennia. They can be hard to find, yet their...
Researchers have sequenced and analyzed the first two snake genomes, which represent two evolutionary extremes. The...
Snake venoms are remarkably complex mixtures that can stun or kill prey within minutes. But more and more researchers...
At age 30, Dutch biologist Freek Vonk has built up a respectable career as a snake scientist. But in his home country,...
Since arriving on the island of Guam in the 1940s, the brown tree snake ( Boiga irregularis ) has extirpated native...
An animal rights group known as the Nonhuman Rights Project filed lawsuits in three New York courts this week in an...
Researchers have been hot on the trail of the elusive Denisovans, a type of ancient human known only by their DNA and...
- 5 December 2013 11:26 am , Vol. 342 , #6163
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Geneticists Nail Gene for Rare Anemia
1 November 1996 8:00 pm
An international team of scientists has isolated and cloned a gene for the most common form of Fanconi anemia, a rare and often fatal disease. The findings, published in the November Nature Genetics, have raised hopes for an improved prenatal diagnostic test and gene therapies to treat the disease.
Fanconi anemia afflicts several thousand people worldwide, causing severe bone marrow failure, birth defects, and a form of leukemia. The symptoms often lead to death by age 20.
Geneticist Arleen D. Auerbach of Rockefeller University, New York, and her colleagues have pinpointed mutations in a gene that appear to trigger the disease. The mutated gene, FAA, codes for an aberrant, as-yet-unnamed protein that initiates a cascade of malfunctions in various body systems, including production of blood cells and platelets in the bone marrow. The team suspects that the normal protein plays "a major role in embryonic development," Auerbach says, perhaps in DNA repair and replication. Auerbach presented their work at the American Society of Human Genetics meeting in San Francisco on 31 October.
The findings may have implications beyond Fanconi anemia. The lack of the normal protein or a mutated version may play a role in how anemia patients acquire leukemia. If so, says Grover Bagby, a hematologist who directs the Oregon Cancer Center at the Oregon Health Sciences University in Portland, further work to decipher the protein's exact function could shed light on how to treat a much larger population of patients with leukemia, certain other forms of cancer, and aplastic anemia.