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

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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

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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

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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

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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

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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

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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

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General Support Organizations

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How do you compare to others with this condition?

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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

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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

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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

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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

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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

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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

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General Support Organizations

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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 54 free, full-text research articles on human participants. First 3 results:

Titan cells formation in Cryptococcus neoformans is finely tuned by environmental conditions and modulated by positive and negative genetic regulators.
 

Author(s): Benjamin Hommel, Liliane Mukaremera, Radames J B Cordero, Carolina Coelho, Christopher A Desjardins, Aude Sturny-Leclère, Guilhem Janbon, John R Perfect, James A Fraser, Arturo Casadevall, Christina A Cuomo, Françoise Dromer, Kirsten Nielsen, Alexandre Alanio

Journal:

 

The pathogenic fungus Cryptococcus neoformans exhibits morphological changes in cell size during lung infection, producing both typical size 5 to 7 μm cells and large titan cells (> 10 μm and up to 100 μm). We found and optimized in vitro conditions that produce titan cells in ...

Last Updated: 31 Dec 1969

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Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.
 

Author(s): Hengameh Zahed, Teresa N Sparks, Ben Li, Adnan Alsadah, Joseph T C Shieh

Journal: J. Pediatr.. 2017 Oct;189():222-226.e1.

 

We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review ...

Last Updated: 31 Dec 1969

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Use of Extracorporeal Membrane Oxygenation and Mortality in Pediatric Cardiac Surgery Patients With Genetic Conditions: A Multicenter Analysis.
 

Author(s): Jamie M Furlong-Dillard, Venugopal Amula, David K Bailly, Steven B Bleyl, Jacob Wilkes, Susan L Bratton

Journal: Pediatr Crit Care Med. 2017 Sep;18(9):850-858.

 

Congenital heart disease is commonly a manifestation of genetic conditions. Surgery and/or extracorporeal membrane oxygenation were withheld in the past from some patients with genetic conditions. We hypothesized that surgical care of children with genetic conditions has increased ...

Last Updated: 31 Dec 1969

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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 12 free, full-text review articles on human participants. First 3 results:

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
 

Author(s): Anita Villani, Mary-Louise C Greer, Jennifer M Kalish, Akira Nakagawara, Katherine L Nathanson, Kristian W Pajtler, Stefan M Pfister, Michael F Walsh, Jonathan D Wasserman, Kristin Zelley, Christian P Kratz

Journal: Clin. Cancer Res.. 2017 Jun;23(12):e83-e90.

 

In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical ...

Last Updated: 31 Dec 1969

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Genetic predictors of human chronic pain conditions.
 

Author(s): Katerina Zorina-Lichtenwalter, C B Meloto, S Khoury, L Diatchenko

Journal: Neuroscience. 2016 Dec;338():36-62.

 

Chronic pain conditions are multifactorial disorders with a high frequency in the population. Their pathophysiology is often unclear, and treatment is inefficient. During the last 20years, genetic linkage analysis and association studies have made considerable strides toward identifying ...

Last Updated: 31 Dec 1969

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The Conundrum of Genetic "Drivers" in Benign Conditions.
 

Author(s): Shumei Kato, Scott M Lippman, Keith T Flaherty, Razelle Kurzrock

Journal:

 

Advances in deep genomic sequencing have identified a spectrum of cancer-specific passenger and driver aberrations. Clones with driver anomalies are believed to be positively selected during carcinogenesis. Accumulating evidence, however, shows that genomic alterations, such as those ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells
 

Status: Not yet recruiting

Condition Summary: Genetic Disease

 

Last Updated: 1 Aug 2018

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Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
 

Status: Recruiting

Condition Summary: Genetic Disorders in Pregnancy

 

Last Updated: 26 Sep 2018

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Last Updated: 28 Sep 2018

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