How can gene variants affect health and development?

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When a change occurs in a gene, its genetic information and instruction to make a protein are altered, resulting in malfunction of the proteins. When a variant alters a protein and its intended function in the body, it can cause a disruption to normal development or a health condition.

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Lou Gehrig is a condition named after famous baseball player who was diagnosed with this condition? This condition is also referred to as amyotrophic lateral sclerosis.

Naming genes

Unlike genetic conditions, human gene names have a standard system of naming them. HUGO Gene Nomenclature (HGNC) designates an official name and symbol for each known human gene. It is a non-profit organization funded by the U.S. National Human Genome Research Institute and the UK’s Wellcome Trust. Till date, the Committee has named more than 19,000 of the estimated 20,000 to 25,000 protein-coding genes in the human genome.

Several gene names and symbols are often proposed by researchers, to avoid this confusion the committee gives a unique name and symbol to each human gene as an effective solution. The genes are named according to HGNC’s laid out guidelines for Human Gene Nomenclature.

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