News tagged with gene defect
Researchers find clues to common birth defect in gene expression data
Researchers at MassGeneral Hospital for Children (MGHfC), The Jackson Laboratory and other institutes have uncovered 27 new candidate genes for congenital diaphragmatic hernia (CDH), a common and often deadly birth defect.
Feb 06, 2012 |
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Study finds two genes affect anxiety, behavior in mice with too much MeCP2
The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating ...
Jan 08, 2012 |
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Biologists use flies, mice to study Down syndrome
A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality ...
Nov 04, 2011 |
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Progeria: Promising results from new gene therapy on animals
Researchers are continuing their efforts in an attempt to counter the consequences of the genetic defect that causes Progeria. Until now, no model had been able to accurately imitate the effects of the disease in humans. ...
Oct 27, 2011 |
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Gene mutations predict early, severe form of kidney disease
The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly ...
Oct 24, 2011 |
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Clues revealed to cause of deadly kidney disease in newborns
Babies born with autosomal recessive polycystic kidney disease (ARPKD) often develop kidney failure because they have very large kidneys filled with tiny cysts. Even with excellent medical care, about 30% die shortly after ...
Oct 24, 2011 |
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Study finds clue to birth defects in babies of mothers with diabetes
In a paper published today in Diabetologia, a team at Joslin Diabetes Center, headed by Mary R. Loeken, PhD, has identified the enzyme AMP kinase (AMPK) as key to the molecular mechanism that significantly increases the ri ...
Oct 17, 2011 |
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New gene therapy methods accurately correct mutation in patient's stem cells
For the first time, scientists have cleanly corrected a human gene mutation in a patient's stem cells. The result, reported in Nature on Wednesday 12 October, brings the possibility of patient-specific therapies closer to bec ...
Oct 12, 2011 |
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Common form of autism recreated in a new mouse model
Over the past decade, new technologies have revealed that autism spectrum disorder has a substantial genetic component. But determining exactly which genes are involved has been like finding the proverbial needle in the haystack.
Oct 05, 2011 |
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In next-gen DNA sequence, new answers to a rare and devastating disease
In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering ...
Sep 06, 2011 |
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Study discovers new genes for rare inherited diseases
An international team of researchers has identified two new genes connected with hereditary renal diseases.
Sep 06, 2011 |
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Researchers identify gene that leads to myopia (nearsightedness)
A Ben-Gurion University of the Negev research group led by Prof. Ohad Birk has identified a gene whose defect specifically causes myopia or nearsightedness.
Sep 01, 2011 |
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'Gene overdose' causes extreme thinness
Scientists have discovered a genetic cause of extreme thinness for the first time, in a study published today in the journal Nature.
Aug 31, 2011 |
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Defect in A20 gene expression causes rheumatoid arthritis
Researchers from VIB (Flanders Institute for Biotechnology) and Ghent University have shown that a defective gene can contribute to the onset of rheumatoid arthritis, an often-crippling inflammation of the joints that afflicts ...
Aug 16, 2011 |
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Sperm coat protein may be key to male infertility
The loss of a protein that coats sperm may explain a significant proportion of infertility in men worldwide, according to a study by an international team of researchers led by UC Davis. The research could ...
Jul 20, 2011 |
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