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Specific Genetic Disorders. Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI). Below is a list of selected genetic, orphan and rare diseases. This list is by no means comprehensive.


The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.


Many of the various lists seem to be closer to lists of rare genetic diseases, rather than of rare diseases per se. Some rare diseases that are not genetic are included. For example, malaria is on the list, because it’s rare in Europe and North America. But there appears to be under-representation of the many non-genetic rare diseases.


Human genetic disease: Human genetic disease, any of the diseases and disorders that are caused by mutations in one or more genes. With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic diseases are a major cause of disability, death,


What is a genetic disease or disorder? Learn from a list of genetic diseases that are caused by abnormalities in an individual's genome. There are four main types of genetic inheritance, single, multifactorial, chromosome abnormalities, and mitochondrial inheritance. Genetic testing is available for some genetic diseases.


In some cases, genetic changes that cause disease are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed. Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited.


A genetic disease is due to a faulty gene or group of genes. While not all gene defects cause disease, many do. New genetic diseases are discovered every month; as of 2001, there are estimated to be approximately 1,100 genetic diseases. Genetic defects cause diseases in a variety of ways. The ...


There are over 6,000 genetic disorders that can be passed down through the generations, many of which are fatal or severely debilitating. Since 1997, the GDF has worked with Mount Sinai to help provide funding for research to improve early detection and treatment options for many of these disorders.


What does it mean to have a genetic predisposition to a disease? How are gene mutations involved in evolution? What information about a genetic condition can statistics provide? How are genetic conditions and genes named? Other chapters in Help Me Understand Genetics


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