Archive for the ‘Genetic Factors’ Category
Autism
Autism is a genetic disease that prevents the child to communicate. Still little known, this disease needs to be diagnosed earlier, but it is still necessary in identifying the signs. Interview with Bernadette Roeg, a psychologist and professor at the University of Toulouse Mirail. It belongs to the lab “-CERPP Octagon” and the association CERES (Centre for Regional Education and Services for Autism), specializes in early identification of children with autism.
“The more tracks early autism, the greater the chance to help families” Read the rest of this entry »
Severe migraine, the new genetics on the track!
It has long been known that there is a familial predisposition to migraine. Work at the end of the last century have revealed a gene involved in a severe hereditary. Italian scientists have now identified a new gene and for the first time offer an explanation of the origin of pain.
Familial hemiplegic migraine, a form of severe migraine, continues to reveal its secrets. Its genetic origin had already been demonstrated, the first gene identified but new studies show that another chromosome is involved, and especially provide new perspectives.
Familial hemiplegic migraine, what is it?
This is a rare form of severe migraine: the pain is associated with temporary paralysis on one side of body (hemiplegia), to sensory disturbances and possibly other neurological disorders (deafness, disequilibrium, visual disturbances, etc..). This form is called family because if one parent is affected, 50% of children are too. Read the rest of this entry »
Prader Willi Syndrome
What is Prader Willi Syndrome?
Prader-Willi syndrome is a rare disease (a birth on 10.000/15.000) that the ‘absence or loss of function of genes on chromosome 15. In more than 95% of cases, this anomaly is not genetically inherited from parents.
The children at birth (and whether or not fetal) muscle weakness strict (hypotonia), which also involves feeding difficulties in the newborn.
Then, from two to five years, will try not satiety. If you do not keep a strict low-calorie diet with regular physical activity, these children will develop obesity, which could put their lives in danger. Read the rest of this entry »
Born with a genetic disease
More than 30 000 children born each year with a genetic disease. While some will say the first few months, others appear until adolescence or adulthood. Today, the tools used to detect these problems early, and organizations offering their support. The point not to remain alone with the disease.
While most children are born without problems, more than 30,000 babies are born with a genetic disease each year. Today, 3 million people live well with a health problem related to a change in their genes. Read the rest of this entry »
What is a gene?
1. Historical review
Mendel concluded from his breeding experiments with peas that transfer of traits genetic factors were responsible for
1900 chromosomes were identified as carriers of genetic
1909, the terms gene, genotype and phenotype introduced
in studies in Drosophila, Morgan suggests that a gene is a small part of a chromosome: one gene-one enzyme hypothesis
Molecular biology finally defined a gene as a DNA portion that encodes the amino acid sequence of a polypeptide chain
Now known fractional genes, the introns and exons are present in
In addition, there are specific beginning and ending sequences, which are translated into amino acid sequence of a not Read the rest of this entry »