Genetic Diseases Open Access Articles

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins.Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.Most human genetic defects can be categorized as resulting from either chromosomal, single-gene Mendelian, single-gene non-Mendelian, or multifactorial causes.A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes. Open access to the scientific literature means the removal of barriers (including price barriers) from accessing scholarly work. There are two parallel “roads” towards open access: Open Access articles and self-archiving. Open Access articles are immediately, freely available on their Web site, a model mostly funded by charges paid by the author (usually through a research grant). The alternative for a researcher is “self-archiving” (i.e., to publish in a traditional journal, where only subscribers have immediate access, but to make the article available on their personal and/or institutional Web sites (including so-called repositories or archives)), which is a practice allowed by many scholarly journals. Open Access raises practical and policy questions for scholars, publishers, funders, and policymakers alike, including what the return on investment is when paying an article processing fee to publish in an Open Access articles, or whether investments into institutional repositories should be made and whether self-archiving should be made mandatory, as contemplated by some funders.

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Last date updated on April, 2024