Genetic Conditions

Common Name(s)

Genetic Conditions

A genetic disorder or condition is the result of changes, or mutations, in an individual’s DNA. A mutation is a change in the letters (DNA sequence) that make up a gene. This is sometimes referred to as a “spelling” mistake. Most genes code for proteins, the molecules that carry out most of the work, perform most life functions, and make up the majority of cellular structures. Some genes code for other structural and regulatory molecules (non-coding RNA). When a gene is mutated so that its protein or molecule product can no longer carry out its normal function, a disorder can result.

Genetic diseases can be inherited because they are mutations in the germ cells of the body - sperm and egg cells involved in passing genetic information from parents to offspring. Genetic diseases can also result from changes in DNA in somatic cells, or cells in the body that are not germ cells (such as cells in the lungs, skin cells, or cells in the bone marrow).

Some genetic diseases are called Mendelian disorders—they are caused by mutations that occur in the DNA sequence of a single gene. These are usually rare diseases; some examples are Huntington’s disease, sickle cell disease and cystic fibrosis. Many genetic diseases are multifactorial—they are caused by mutations in several genes but are also influenced by environmental factors. Some examples of these are heart disease, cancer, and diabetes.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Genetic Conditions" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

View Details
Erfocentrum

Through providing objective, reliable information the Erfocentrum supports people in making informed choices regarding their own health and the health of their children. The Erfocentrum also supports people in forming their own personal opinions about social and ethical aspects of genetics and biomedical issues.

Last Updated: 29 Jan 2015

View Details
Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

Last Updated: 12 Dec 2012

View Details
Genetic Alliance Australia

Genetic Alliance Australia (GA-AU) is an umbrella group, facilitating support for those affected directly or indirectly by rare diseases (80% of which are genetic in origin) throughout Australasia. We offer peer support, education and information through our seminars, annual information days and resource booklets. GA-AU has a database of over 950 predominantly rare genetic conditions and a contact register representing approximately 2500 people. GA-AU works in partnership with sister organisations around the world.

Last Updated: 29 Jun 2015

View Details
Genetic Interest Group

Our mission is to promote awareness and understanding of genetic disorders so that high quality services for people affected by genetic conditions are developed and made available to all who need them.

Last Updated: 2 Dec 2009

View Details
Genetic Support Network of Victoria

The Genetic Support Network of Victoria's mission is to provide an information, education, support and advocacy network which empowers people to overcome the challenges presented to them by genetic conditions.

Last Updated: 2 Dec 2009

View Details
Glut1 Deficiency Foundation

The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to education, awareness, and advocacy for Glut1 Deficiency and supporting researchers as they work for better treatments and an ultimate cure.

Last Updated: 19 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Genetic Conditions" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
Erfocentrum

Through providing objective, reliable information the Erfocentrum supports people in making informed choices regarding their own health and the health of their children. The Erfocentrum also supports people in forming their own personal opinions about social and ethical aspects of genetics and biomedical issues.

http://www.erfelijkheid.nl

Last Updated: 29 Jan 2015

View Details
Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

http://www.fibrousdysplasia.org/

Last Updated: 12 Dec 2012

View Details
Genetic Alliance Australia

Genetic Alliance Australia (GA-AU) is an umbrella group, facilitating support for those affected directly or indirectly by rare diseases (80% of which are genetic in origin) throughout Australasia. We offer peer support, education and information through our seminars, annual information days and resource booklets. GA-AU has a database of over 950 predominantly rare genetic conditions and a contact register representing approximately 2500 people. GA-AU works in partnership with sister organisations around the world.

http://www.geneticalliance.org.au/

Last Updated: 29 Jun 2015

View Details
Genetic Interest Group

Our mission is to promote awareness and understanding of genetic disorders so that high quality services for people affected by genetic conditions are developed and made available to all who need them.

http://www.gig.org.uk

Last Updated: 2 Dec 2009

View Details
Genetic Support Network of Victoria

The Genetic Support Network of Victoria's mission is to provide an information, education, support and advocacy network which empowers people to overcome the challenges presented to them by genetic conditions.

http://www.gsnv.org.au

Last Updated: 2 Dec 2009

View Details
Glut1 Deficiency Foundation

The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to education, awareness, and advocacy for Glut1 Deficiency and supporting researchers as they work for better treatments and an ultimate cure.

http://www.G1DFoundation.org

Last Updated: 19 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Genetic Conditions" returned 34 free, full-text research articles on human participants. First 3 results:

Regional difference of genetic factors for congenitals cataract. The results of congenital cataract screening under normal pupil conditions for infants in Tianjin city.
 

Author(s): L-A Huo, J Yang, C Zhang

Journal: Eur Rev Med Pharmacol Sci. 2014 ;18(3):426-30.

 

To inquire into the morbidity of congenital cataract which affects the visual development of infants in Tianjin, find the proportion of cases caused by genetic factors, and to provide the baseline information for discovering amblyopia in an early stage so as to reduce vision disability.

Last Updated: 24 Feb 2014

Go To URL
Geoffroy's side-necked turtle [Phrynops geoffroanus (Schweigger, 1812), Testudines: Chelidae] as a model for evolutionary ecotoxicology: relationship between environmental contamination, conditions and genetic variability.
 

Author(s): L P R Venancio, D A P C Zuccari, C R Bonini-Domingos

Journal:

 

The objective of this study was to evaluate the role of human activity factors, such as environmental contamination and habitat changes, as drivers for changing the physiological, biochemical, and genetic diversity of Geoffroy's side-necked turtle populations in one of the most impacted ...

Last Updated: 6 Jan 2014

Go To URL
Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications.
 

Author(s): Elizabeth Ormondroyd, Stephanie Oates, Michael Parker, Edward Blair, Hugh Watkins

Journal: Eur. J. Hum. Genet.. 2014 Jan;22(1):88-93.

 

Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at any age, yet are often asymptomatic and clinically undetected. Prophylactic interventions are available and cascade testing is recommended to identify family members at risk. When a disease-causing mutation has ...

Last Updated: 16 Dec 2013

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Genetic Conditions" returned 9 free, full-text review articles on human participants. First 3 results:

The phenotypic and genetic signatures of common musculoskeletal pain conditions.
 

Author(s): Luda Diatchenko, Roger B Fillingim, Shad B Smith, William Maixner

Journal: Nat Rev Rheumatol. 2013 Jun;9(6):340-50.

 

Musculoskeletal pain conditions, such as fibromyalgia and low back pain, tend to coexist in affected individuals and are characterized by a report of pain greater than expected based on the results of a standard physical evaluation. The pathophysiology of these conditions is largely ...

Last Updated: 3 Jun 2013

Go To URL
Designing and implementing a longitudinal study of children with neurological, genetic or metabolic conditions: charting the territory.
 

Author(s): Harold Siden, Rose Steele, Rollin Brant, Susan Cadell, Betty Davies, Lynn Straatman, Kimberley Widger, Gail S Andrews

Journal:

 

Children with progressive metabolic, neurological, or chromosomal conditions and their families anticipate an unknown lifespan, endure unstable and often painful symptoms, and cope with erratic emotional and spiritual crises as the condition progresses along an uncertain trajectory ...

Last Updated: 11 Oct 2010

Go To URL
Quality of life in rare genetic conditions: a systematic review of the literature.
 

Author(s): Julie S Cohen, Barbara B Biesecker

Journal: Am. J. Med. Genet. A. 2010 May;152A(5):1136-56.

 

Quality of life (QoL) refers to an individual's sense of overall well-being encompassing physical, psychological, emotional, social, and spiritual dimensions. Although genetics healthcare providers strive to promote patient well-being, and the term QoL is often invoked to refer to ...

Last Updated: 28 Apr 2010

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 19 Nov 2013

Go to URL
Studies of Children With Metabolic and Other Genetic Disorders
 

Status: Recruiting

Condition Summary: Genetic Disorder; Metabolic Disease

 

Last Updated: 13 May 2015

Go to URL

Last Updated: 2 Mar 2015

Go to URL