News tagged with hereditary disease
Treatment with A1-PI slows the progression of emphysema in Alpha-1 antitrypsin deficiency
Treatment with an Alpha-1 proteinase inhibitor (A1-PI), a naturally occurring protein that protects lung tissue from breakdown and protects the lung's elasticity, is effective in slowing the progression of emphysema in patients ...
Cancer
May 21, 2013 |
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Scientists find clues to some inherited heart diseases
(Medical Xpress)—Cornell researchers have uncovered the basic cell biology that helps explain heart defects found in diseases known as laminopathies, a group of some 15 genetic disorders that include forms ...
Medical research
May 07, 2013 |
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'Unknown' neurological disorder often incorrectly diagnosed
The very serious hereditary disease HDLS was discovered in 1984 in Sweden. Many HDLS patients are still incorrectly diagnosed with Alzheimer's disease, MS or Parkinson's disease, but researchers at the Sahlgrenska Academy, ...
Neuroscience
Apr 10, 2013 |
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Germany clears genetic testing of embryos
Germany's upper house of parliament on Friday gave its green light to testing embryos after in vitro fertilisation in certain cases after a passionate ethical debate in the country on the issue.
Obstetrics & gynaecology
Feb 01, 2013 |
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Scientists discover 'needle in a haystack' for muscular dystrophy patients
(Medical Xpress)—Muscular dystrophy is caused by the largest human gene, a complex chemical leviathan that has confounded scientists for decades. Research conducted at the University of Missouri and described ...
Medical research
Jan 22, 2013 |
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New findings on gene regulation and bone development
The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short ...
Genetics
Nov 05, 2012 |
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High blood cholesterol is overlooked
High blood cholesterol, a serious hereditary disease, is far more common than previously recognised and not treated sufficiently. This is shown in new research from the University of Copenhagen and Herlev ...
Medical research
Nov 01, 2012 |
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High occurrence of hereditary osteochondrosis and loose bone fragments in Norwegian standard bred trotters
A PhD research project carried out at The Norwegian School of Veterinary Science has revealed that 50.7% of Norwegian standard bred horses of the same age suffer from loose bone fragments and defects in their ...
Diseases, Conditions, Syndromes
Oct 26, 2012 |
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Developing stem cell model for Gaucher disease, neurodegenerative conditions
A new method of using adult stem cells as a model for the hereditary condition Gaucher disease could help accelerate the discovery of new, more effective therapies for this and other conditions such as Parkinson's, according ...
Neuroscience
Oct 15, 2012 |
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Genetic discovery for hereditary spastic ataxia—rare disease in Newfoundland
Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU–Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from ...
Genetics
Sep 06, 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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Two patients in Scotland get stem cell transplants to treat blindness
(Medical Xpress) -- Two people in Scotland have received stem cell transplants into their eyes in a clinical trial that is aimed at restoring vision in people that suffer some degree of blindness due to damage ...
Ophthalmology
May 22, 2012 |
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New throat cancer gene uncovered
Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition.
Cancer
Mar 08, 2012 |
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Increased risk of developing asthma by age of 3 after cesarean section
A new study supports previous findings that children delivered by cesarean section have an increased risk of developing asthma. The study from the Norwegian Mother and Child Cohort Study (MoBa) suggests that children delivered ...
Diseases, Conditions, Syndromes
Jan 10, 2012 |
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New inherited neurometabolic disorder discovered
Researchers at the Swedish medical university Karolinska Institutet have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused ...
Genetics
Sep 30, 2011 |
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