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Genetics and Birth Defects

No genetic testing for sporting talent

No scientific basis to genetic testing for sporting talent. ...

How a mutated gene wreaks havoc on white matter

By Bill Hathaway - An inherited disease of myelin marked by slow, progressive neurological impairment is caused by mutations of a gene ...

Genetic defect underlying a rare disease identified

(Vienna) Researchers at MedUni Vienna have discovered the genetic cause of a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy and ataxia (a movement disorder), when they reach school age. In 2007 the same researchers published a mutation in the Scyl1 gene in a naturally occurring mouse mutant with similar symptoms. ... Full story

Genetics : an "origins code" for DNA

The source of any life involves the duplication (or replication) of DNA, a mechanism that is essential to cell division. A team of biologists has recently performed the most exhaustive analysis to date of thousands of sites (called origins) where this replication of the genome is initiated in multicellular organisms. ... Full story

DNA strands often “wiggle” as part of genetic repair

Sometimes, the molecules that make up life exhibit strange behavior. For instance, in simple organisms such as yeast, when genetic material becomes damaged, the affected DNA strands increase their motion, waving about inside the cell like a sail unfurled. Over the years, scientists have seen more instances of such curious behavior during DNA repair—one of life’s most fundamental processes—but whether it also happened in human cells was debated. Until now. ... Full story

New Layer of Gene Regulation May Play Key Role in Common Lymphoma

Thousands of mysterious genes underlie the most common form of non-Hodgkin lymphoma, researchers at Weill Cornell Medicine have found in a new study. Their discovery illuminates a new layer of gene regulation that may drive cancer, and may lead to more effective targets for treating it. ... Full story

Study reveals the architecture of the molecular machine that copies DNA

DNA replication is essential to all life, yet many basic mechanisms in that process remain unknown to scientists. The structure of the replisome—a block of proteins responsible for unwinding the DNA helix and then creating duplicate helices for cell division—is one such mystery. ... Full story

Reseachers find the "faulty gatekeeper" that causes increased miscarriage and birth defects

It is well known that the risk of miscarriage and the risk of having a baby with chromosomal abnormalities increases significantly with maternal age. ... Full story

Scientists find possible genetic key to why some lymphoma patients don't respond to treatment

An important regulator that controls the ability of tumour cells to hide from the immune system in lymphoma patients, making them unlikely to respond to standard treatment, has been discovered by scientists at the University of Oxford. ... Full story

Discovery of genes involved in inner ear development hints at a way to restore hearing and balance

Loud noise, trauma, infections, plain old aging—many things can destroy hair cells, the delicate sensors of balance and sound within the inner ear. And once these sensors are gone, that’s it; the delicate hair cells don’t grow back in humans, leading to hearing loss and problems with balance. ... Full story

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