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 created May 21, 2013 | popularity not rated yet | comments 0

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 created May 07, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

'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 created Apr 10, 2013 | popularity not rated yet | comments 0

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 created Feb 01, 2013 | popularity not rated yet | comments 0

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 created Jan 22, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

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 created Nov 05, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

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 created Nov 01, 2012 | popularity not rated yet | comments 0

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 created Oct 26, 2012 | popularity not rated yet | comments 0

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 created Oct 15, 2012 | popularity 5 / 5 (2) | comments 0 | with audio podcast

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 created Sep 06, 2012 | popularity 1 / 5 (1) | comments 0

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 created Jun 26, 2012 | popularity not rated yet | comments 0

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 created May 22, 2012 | popularity 4.6 / 5 (8) | comments 1 | with audio podcast report

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 created Mar 08, 2012 | popularity 5 / 5 (2) | comments 0 | with audio podcast

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 created Jan 10, 2012 | popularity not rated yet | comments 0

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 created Sep 30, 2011 | popularity 4 / 5 (1) | comments 0