Cornelia deLange syndrome: Mutations disrupt cellular recycling and cause childhood genetic disease
Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that ...
Genetics
Aug 12, 2012 |
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Marqibo approved for rare leukemia
(HealthDay) -- Marqibo (vincristine sulfate liposome injection) has been approved by the U.S. Food and Drug Administration to treat adults with a rare form of blood and bone marrow cancer, Philadelphia chromosome negative ...
Cancer
Aug 10, 2012 |
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Marqibo approved for ph- acute lymphoblastic leukemia
(HealthDay) -- Marqibo (vincristine sulfate liposome injection) has been approved by the U.S. Food and Drug Administration to treat adults with Philadelphia chromosome negative acute lymphoblastic leukemia ...
Medications
Aug 10, 2012 |
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Fragile X and Down syndromes share signalling pathway for intellectual disability
Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regula ...
Genetics
Aug 03, 2012 |
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Adrenoleukodystrophy unravelled
The European X-ALD project undertook an initiative to understand the mechanisms responsible for the pathogenesis of adrenoleukodystrophy (ALD). The gene therapy approach for treating ALD developed during the ...
Genetics
Jul 30, 2012 |
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Parents of severely disabled kids say they enrich their lives
(HealthDay) -- When Vanessa Hernandez's sixth child was born, she knew right away her daughter was different.
Health
Jul 23, 2012 |
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Mutations in autism susceptibility gene increase risk in boys
Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Autism spectrum disorders
Jul 12, 2012 |
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Anxiety linked to shortened telomeres, accelerated aging: research
(Medical Xpress) -- Is anxiety related to premature aging? A new study by researchers at Brigham and Women's Hospital (BWH) shows that a common form of anxiety, known as phobic anxiety, was associated with shorter telomeres ...
Medical research
Jul 11, 2012 |
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Novel susceptibility loci identified for osteoarthritis
(HealthDay) -- Five novel single nucleotide polymorphisms (SNPs) are significantly associated with osteoarthritis, including one near the nucleostemin-encoding gene, according to a study published online July ...
Arthritis & Rheumatism
Jul 03, 2012 |
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Researchers report success in treating autism spectrum disorder
Using a mouse model of autism, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.
Autism spectrum disorders
Jul 02, 2012 |
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European court urged not to accredit Down's syndrome tests
Groups supporting people with Down's syndrome on Thursday called on the European Court of Human Rights not to recognise the right to tests that would detect the condition before birth.
Other
Jun 28, 2012 |
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Genetic heart diseases may be responsible for unexplained stillbirths
Genetic researchers have made an important step towards resolving the mystery of the causes of intrauterine fetal demise (IUFD), or stillbirth, where a baby dies in the womb after the 14th week of gestation. IUFD is responsible ...
Obstetrics & gynaecology
Jun 26, 2012 |
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Genome-wide analysis shows previously undetected abnormalities in parents of affected children
The use of genome-wide array analysis in parents whose children are suspected of having a genetic disease shows that the parents frequently also have previously undetected genetic abnormalities, a researcher from The Netherlands ...
Genetics
Jun 24, 2012 |
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'Trust' hormone oxytocin found at heart of rare genetic disorder
The hormone oxytocin - often referred to as the "trust" hormone or "love hormone" for its role in stimulating emotional responses - plays an important role in Williams syndrome (WS), according to a study published June 12, ...
Neuroscience
Jun 22, 2012 |
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Researchers discover the cause of an inherited form of epilepsy
Researchers at McGill University have discovered the cause of an inherited form of epilepsy. The disease, known as double-cortex syndrome, primarily affects females and arises from mutations on a gene located on the X chromosome. ...
Medical research
Jun 21, 2012 |
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