Genetic Conditions

Common Name(s)

Genetic Conditions

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Association of Genetic Support of Australasia

AGSA 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. AGSA has a database of over 950 predominantly rare genetic conditions and a contact register representing approximately 2500 people. AGSA also has a chromosomal abnormality group - Rare Treasures - which is growing all the time. AGSA works in partnership with sister organisations around the world.

Last Updated: 7 Apr 2013

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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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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 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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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Association of Genetic Support of Australasia

AGSA 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. AGSA has a database of over 950 predominantly rare genetic conditions and a contact register representing approximately 2500 people. AGSA also has a chromosomal abnormality group - Rare Treasures - which is growing all the time. AGSA works in partnership with sister organisations around the world.

http://www.agsa-geneticsupport.org.au

Last Updated: 7 Apr 2013

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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

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

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

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Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions.
 

Author(s): Agnieszka Maliszewska, Luis J Leandro-Garcia, Esmeralda Castelblanco, Anna Macià, Aguirre de Cubas, Gonzalo Goméz-López, Lucía Inglada-Pérez, Cristina Álvarez-Escolá, Leticia De la Vega, Rocío Letón, Álvaro Gómez-Graña, Iñigo Landa, Alberto Cascón, Cristina Rodríguez-Antona, Salud Borrego, Mariangela Zane, Francesca Schiavi, Isabella Merante-Boschin, Maria R Pelizzo, David G Pisano, Giuseppe Opocher, Xavier Matias-Guiu, Mario Encinas, Mercedes Robledo

Journal: Am. J. Pathol.. 2013 Feb;182(2):350-62.

 

Medullary thyroid carcinoma accounts for 2% to 5% of thyroid malignancies, of which 75% are sporadic and the remaining 25% are hereditary and related to multiple endocrine neoplasia type 2 syndrome. Despite a genotype-phenotype correlation with specific germline RET mutations, knowledge ...

Last Updated: 21 Jan 2013

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Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions.
 

Author(s): Heather Skirton, Lesley Goldsmith, Leigh Jackson, Aad Tibben

Journal: Eur. J. Hum. Genet.. 2013 Mar;21(3):256-60.

 

Presymptomatic testing (PST) is the performance of a genetic test on an asymptomatic individual at risk of a condition to determine whether the person has inherited the disease-causing mutation. Although relevant guidelines exist for specific diseases, there is no overarching protocol ...

Last Updated: 14 Feb 2013

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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 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

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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

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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

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 19 Nov 2013

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Studies of Children With Metabolic and Other Genetic Disorders
 

Status: Recruiting

Condition Summary: Genetic Disorder; Metabolic Disease

 

Last Updated: 15 May 2014

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A Social Media Approach to Improve Genetic Risk Communication Phase I
 

Status: Recruiting

Condition Summary: Hereditary Diseases

 

Last Updated: 19 Jun 2014

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