Down syndrome

Cystic fibrosis (41)
Down syndrome (35)
Genetic disease (68)
Muscular dystrophy (42)
Thalassemia (5)

Synopsis: Health: Illness: Congenital diseases: Down syndrome:


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Makova says. veryone is concerned about Down syndrome because that is a common genetic problem. We have added now another set of genetic disorders that also might be affected by the age of the mother.


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and 11 as having other##global delay##conditions such as suspected intellectual disabilities Down syndrome or other disorders.


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Instead of the abnormalities marking a new species the bones more likely indicate Down syndrome researchers say.

and according to the researchers contains important features most consistent with a diagnosis of Down syndrome. he skeletal sample from Liang Bua cave contains fragmentary remains of several individualseckhardt says.

and the revised figure falls in the range predicted for a modern human with Down syndrome from the same geographic regioneckhardt says.

But humans with Down syndrome also have diagnostically short thighbones Eckhardt says. Though these and other features are acknowledged unusual he nusual does not equal unique.

Down syndrome one of the most commonly occurring developmental disorders in modern humans. hen we first saw these bones several of us immediately spotted a developmental disturbancesays Eckhardt ut we did not assign a specific diagnosis

Over the years several lines of evidence have converged on Down syndrome. he first indicator is craniofacial asymmetry a left-right mismatch of the skull that is characteristic of this and other disorders.

Here too the brain size they estimate is within the range expected for an Australomelanesian human with Down syndrome.

LB1 s short thighbones not only match the height reduction seen in Down syndrome Eckhardt says but when corrected statistically for normal growth they would yield a stature of about 1. 26 meters


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They#ve also known that chromosome 21 plays a role in the disease due to Alzheimer s-like symptoms in people with Down syndrome (with three copies of chromosome 21.


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#Drug Cures Mice Of Down syndrome With A Single Dose Cure Down syndrome with a single injection?

A team of scientists from John Hopkins University and the National institutes of health have cured newborn mice of Down syndrome by injecting them with a drug that stimulates

People with Down syndrome usually have smaller brain volumes than control groups including significantly smaller cerebellums a portion of the brain involved in motor control.

The researchers led by Roger Reeves of the John Hopkins University School of medicine treated newborn mice that had been engineered genetically to have Down syndrome-like characteristics with a small molecule called SAG.

Down syndrome is very complex and nobody thinks there's going to be a silver bullet that normalizes cognition Reeves said in a statement.

Down syndrome creates a great many genetic expressions to the individual. some dont get all that are possible. most likely any physiological characteristics would be largely permanent after birth.


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a finding that may have important implications for children with Down syndrome who have a higher risk of developing the blood cancer.

Patients with Down syndrome have three copies of chromosome 21 in their cells. Theye also 20 times more likely to contract childhood B-cell acute lymphoblastic leukemia than the general population,

children with Down syndrome have more DYRK1A than usual. his finding is exciting to us because human B-cell acute lymphoblastic leukemia cases show increased levels of DYRK1A, said Crispino. he results suggest that DYRK1A may be a novel target for therapy in this form of leukemia.


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#Down syndrome Research Untangles Therapeutic Possibilities for Alzheimer More than five million Americans are living with Alzheimer disease (AD.

Of them, 400,000 also have Down syndrome. Both groups have similar looking brains with higher levels of the protein beta amyloid.

In fact, patients with Down syndrome develop the abnormal protein at twice the rate. Results of a pilot study, published in the September issue of Frontiers in Behavioral neuroscience, confirms the pathogenic role of beta amyloid in dementia as seen in both AD

and Down syndrome. eople with Down syndrome represent the world largest population of predetermined Alzheimer disease. By studying these individuals,

called The down Syndrome Biomarker Initiative (DSBI), involved twelve participants between the ages of 30 and 60 with Down syndrome,

and retinal amyloid imaging. his study shows some of the earliest known Alzheimer disease biomarker changes in adults with Down syndrome

and underscores the need for additional studies, said Rafii. his study will set the stage for the first clinical trial of anti-beta amyloid therapy in the preclinical treatment of Alzheimer disease in adults with Down syndrome.

including Down syndrome. People with Down syndrome have an extra copy of the 21st chromosome where the production gene for the beta amyloid protein resides.

The ADCS was founded by the late Leon Thal M d.,a world leader in Alzheimer research, to promote the discovery, development and testing of new drugs for the treatment of AD.


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they chose the most complex one known, Down syndrome cell adhesion molecule 1 (Dscam1), which controls the wiring of the brain in fruit flies.


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Everyone is concerned about Down syndrome because that is a common genetic problem. We have added now another set of genetic disorders that also might be affected by the age of the mother.


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#Multiple neurodevelopmental disorders have a common molecular cause Neurodevelopmental disorders such as Down syndrome and autism-spectrum disorder can have profound lifelong effects on learning


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#Tablet technology to help children with autism Monash University researchers have developed the world first tablet technology designed to assist children with developmental disabilities such as autism and Down syndrome.


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