Information About Genetic Diseases

What is a genetic disorder or disease?

Genetic diseases are caused due to abnormalities in genes or the genetic material of an individual. Genetic diseases are generally hereditary are caused due to mutation or other environmental factors. Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients.

Genetic Diseases

Haemophilia

Haemophilia is a blood condition in which an essential clotting factor is either partly or completely missing. This causes a person with haemophilia to bleed for longer than normal. Cuts and grazes are not great problems as a little pressure and a plaster are usually enough to stop bleeding.

The blood of a person with hemophilia does not clot normally. He does not bleed more profusely or more quickly than other people; however, he bleeds for a longer time.

Angelman syndrome

The Angelman synthesis symptom is affects the nervous system the complex gene to be chaotic. Angelman Syndrome is a classic example of genetic imprinting caused by deletion or inactivation of critical genes on maternally inherited chromosomes. This gene is the existence in the mother and the father chromosome, but differently in methylation style. Other causes include uniparental disomy, translocation, or single gene mutation in that region.

Angelman Syndrome

Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15.

What is Dyslexia ?

We have often heard about the disease named "Dyslexia". But how many of us actually know about the details of this disease? I'm sure that not many of you might be aware of its complications and effects. Let me throw light on this subject.

Types of Dyslexia

Surface Dyslexia- Surface dyslexia is characterized by subjects who can read known words but who have trouble reading words that are irregular. Surface dyslexia is the outcome of an individual who cannot function using the lexical procedure for reading out loud. The lexical procedure includes sounding out a word through the use of a past word already known.

Phonological Dyslexia-Phonological dyslexia is characterized by subjects who can read aloud both regular and irregular words but have difficulties with non-words and with connecting sounds to symbols, or with sounding out words. Phonological processing tasks predict reading accuracy and comprehension.

Double Deficit Dyslexia-Researchers have identified a deficit related to "naming speed", which relates to the ability of students to rapidly verbalize the names of symbols such as letters and numbers when tested.

I hope that the above article helps you understand about this disease in a better manner.

Theories

Evolutionary Hypothesis

This theory posits that reading is an unnatural act, and carried out by humans for an exceedingly brief period in our evolutionary history. It has been less than a hundred years that most western societies promoted reading by the mass population and therefore the forces that shape our behavior have been weak.

Identified by Oswald Berkhan in 1881, [3] the term 'dyslexia' was later coined in 1887 by Rudolf Berlin, an ophthalmologist practicing in Stuttgart, Germany.[4] He used the term to refer to a case of a young boy who had a severe impairment in learning to read and write in spite of showing typical intellectual and physical abilities in all other respects.

Phonological hypothesis

The phonological hypothesis postulates that dyslexics have a specific impairment in the representation, storage and/or retrieval of speech sounds. It explains dyslexics' reading impairment on the basis that learning to read an alphabetic system requires learning the grapheme/phoneme correspondence, i.e. the correspondence between letters and constituent sounds of speech.