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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.


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.


Family bonds can be very strong, so strong that several genetic disorders, or conditions, are common in children through their parents or grandparents where diseases can directly be traced back through ancestry or ethnicity. For example, sickle cell anemia is one common genetic disorder that mainly ...


READ Personalised Medicine: Genetic Screening For Cancer Patients. Thalassemias The thalassemias (beta-thalassemia is the most common, alpha-thalassemia is less common) is a group of inherited blood disorders where hemoglobin, the oxygen-carrying molecule, is not properly synthesized by the red blood cells.


Top 10 Most Common Genetic Disorders. A genetic disorder is caused by abnormalities in an individual’s genetic material (the DNA, or the genome). There are four different types of genetic disorders.


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.


This genetic disease results due to the presence of an extra copy of gene on the 21st chromosome. It is amongst the most common genetic disorders in children. The rate of Down Syndrome getting inherited is 1 out of 733. In this disease, the physical and cognitive ability of the patient gets impaired.


Top 10 Most Common Genetic Disorders. No person is born with a choice of genes. Alterations in DNA can result from a mutation in a single gene, chromosome abnormalities, or multi-factorial disorders. When genetic disorders do occur, they are often rare, and affect one person among thousands of individuals.


Charcot-Marie-Tooth disease is a broad spectrum of different types of inherited peripheral neuropathy. The most common types affect motor and sensory nerves and cause muscle wasting and sensory loss. There have been few trials of treatment for Charcot-Marie Tooth disease.


Inherited genetic diseases affect millions worldwide. Family health history is the biggest predictor of genetic disease. Research is ongoing to detect and treat genetic disease. The decision to be tested for genetic disease is often difficult and includes many moral and ethical issues.