Category:Clinical genetics

From Ganfyd

Introduction

What is Clinical genetics?

Clinical genetics is the specialty which provides a diagnostic service and "genetic counselling" for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. The aim of genetic services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. Genetic disorders include :

• Chromosomal abnormalities, which cause birth defects, mental retardation and/or reproductive problems.

• Single gene disorders such as cystic fibrosis, muscular dystrophy, Huntington's disease and sickle cell disease.

• Familial cancer and cancer-prone syndromes such as inherited breast or colorectal cancer and neurofibromatosis.

• Birth defects with a genetic component such as neural tube defects and cleft lip and palate.

In addition a large number of individuals with birth defects and/or learning disabilities are referred and investigated for genetic factors. Individuals identified through childhood or pregnancy screening programmes also require genetic services. In the future, as the genetic contributions to common later-onset disorders such as diabetes and coronary heart disease are identified, genetic services may be required for those at high risk.

Historical

Gregor Mendel

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Consanguinity & cousin marriages

Take a look at http://www.clingensoc.org for more details.

Genetics Search Facilities

• NCBI - for Mozilla browsers
• NLM Genetics Home Reference
• GenePool the Clinical Genetics specialist library from the National Library for Health
• NIH-funded web-site