Researchers at the Department of Biochemistry and Molecular Biology of Universitat Autònoma de Barcelona (UAB) have revealed the process by which proteins with a tendency to cause conformational diseases such as amyotrophic lateral sclerosis, familial amyloidotic polyneuropathy, familial amyloidotic cardiomyopathy, etc. finally end up causing them.

An incurable, paralyzing disease in humans is now genetically linked to a similar disease in dogs.

Mutation of a gene that helps proteins migrate in and out of the cell's genetic command center – the nucleus – puts some families at higher risk for the degenerative brain disease acute necrotizing encephalopathy (ANE).

A tale of two sisters has helped researchers solve a medical mystery and discover a familial genetic mutation that causes an inherited form of the lung disease Pulmonary Alveolar Proteinosis (PAP).

With the days shortening toward winter, many people will begin to experience the winter blahs. For some, the effect can be devastating.

An international research collaboration including research teams from the Children's Hospital in Boston (USA), King's College London and the Peninsula Medical School, has identified a gene that, when mutated, causes Duane syndrome.

What are the genes implicated in upright walking of humans? The discovery of four families in which some members only walk on all fours (quadrupedality) may help us understand how humans, unlike other primates, are able to walk for long periods on only two legs, a scientist will tell the annual conference of the European Society of Human Genetics tomorrow (Monday 2 June).

Researchers at St. Jude ChildrenЎ¦s Research Hospital have discovered evidence that a series of genetic mutations work together to initiate most cases of an aggressive and often-fatal form of acute lymphoblastic leukemia (ALL).

Researchers from University of Washington, Cold Spring Harbor Laboratory in New York and the National Institutes of Health conducted a study to trace the connection of schizophrenia and genetic mutations.

By injecting a customized "genetic patch" into early stage fish embryos, researchers at Washington University School of Medicine in St. Louis were able to correct a genetic mutation so the embryos developed normally.

The finding, appearing online in the journal Circulation, is the first to document a genetic mutation linked to PAD. Although the work was done in mice, researchers say it is likely to give them new insight into how PAD develops and progresses in humans.

By creating a genetic mutation in zebrafish, University of Oregon scientists say they've discovered a previously unknown mechanism for cleft palate, a common birth defect in humans that has challenged medical professionals for centuries.