genetic disorder

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Related to Human Genetic Disease: Hereditary diseases, Autosomal disease, inherited diseases

genetic disorder

A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

ge·net·ic dis·or·der

(jĕ-net'ik dis-ōr'dĕr)
A widely used but nonetheless imprecise term that denotes a condition or illness related to biologic inheritance.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Patient discussion about genetic disorder

Q. what makes Arthritis a genetic disease?

A. First of all, the term arthritis is a bit inaccurate: Arthritis denotes an inflammation of joints. There are many kinds of arthritis that may result from different causes, and therefore, are different diseases: septic arthritis (inflammation due to infection of joint) has much less genetic background than ankylosing spondylitis (an arthritis of the lower back joints that occurs almost exclusively in people with certain genetic background).

The arthritis with the genetic background are usually the autoimmune ones: Due to genetic determinants, the immune system of some people is programmed to recognize the various parts of the joints (and other organs as well) as foreign (i.e. like bacteria) and thus launches an attack on them. In normal immune system, that doesn't happen.

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Q. Is bipolar disease a hereditary problem? My only son is in his teens that is the age to enjoy life, but he cannot enjoy his life with his friends because we found that he is suffering from a bipolar condition. I feel so sad for him and though my care-free days have gone, I often think about how much fun I had at his age. I too suffered from a bipolar disorder and my mom too. Is bipolar disease a hereditary problem? I want him to help to enjoy his life.

A. I agree with you. No one should suffer because of hereditary problems. This is the same situation here as genes are passed from generation to generation. This information is inconclusive because many who may have had bipolar disorders did not have it checked out. Who is to say, how many people 50 years ago had it but dismissed it as being moody, or ill tempered. Doctors were not aware about this problem years ago. Some time back, someone who showed signs of a mental disorder was straight away shoved into a mental hospital and left to suffer. Besides they are often treated with electric shock therapy eventually getting out of control. Testing is still in progress to find out if genetics play a role but these theories may take several more years before they can have a better understanding.

Q. Is FMS heredetery? My mother was diagnosed with FMS and I would like to know what are the chances I’ll have it too.

A. Hereditary is not the right term. It’s not a genetic disease but The cause of fibromyalgia remains elusive. However, recent studies show that genetic factors can predispose individuals to a genetic susceptibility to fibromyalgia.

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References in periodicals archive ?
Results offer proof of principle for using the same gene-editing technique for other inherited human genetic diseases.
Zebrafish are a useful model organism for studying human genetic diseases partly because they share approximately 70% of genes with humans.
The company added that the DDD study aims to determine the clinical utility of leveraging advanced genomic technologies to diagnose patients with developmental disorders by identifying novel genes and pathways for human genetic diseases and characterising the associated phenotypes as well as improving informatics and statistical methods to robustly diagnose patients with genetic conditions.
By understanding how genes function, including their mutations, scientists and clinicians can better understand how to treat or cure human genetic diseases. There is a vast difference between understanding how a gene functions versus merely knowing that a mutation exists, as Sidra's Chief Research Officer Dr Francesco Marincola explained.
How the debate shakes out may affect the search for causes of human genetic diseases.
The Coriell Institute is an independent non-profit research organization dedicated to understanding human genetic diseases and providing the highest quality genetic resources.
elegans metabolism lead to metabolic imbalances that interfered with the animal's dietary response; a result that may have a direct correlation to the treatment of a class of human genetic diseases.
The authors said production of iPSCs "opens new opportunities for increased understanding of human genetic diseases and embryo genes is" and will likely have a "great impact on future drug screening and toxicology tests."
Human genetic diseases are caused by mutation or deletion of genes, leading to impairment of the cell cycle.
Amicus Therapeutics is a biopharmaceutical company developing novel, oral therapeutics known as pharmacological chaperones for the treatment of a range of human genetic diseases. Pharmacological chaperone technology involves the use of small molecules that selectively bind to and stabilize proteins in cells, leading to improved protein folding and trafficking, and increased activity.
"In the long term, the information and knowledge we gain using human skin cells and animal eggs could help us to achieve a situation where we would not need to use animal or human eggs to de-differentiate such cells but without this knowledge then our chances of developing models to understand some very complex human genetic diseases will be severely hindered."

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