Genetic disorders

A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.

Illustration about Genetic Syndrome and Genetic Disorder, 3D illustration of science concept. Colorful DNA molecule. Illustration of color, future, cancer - 164052615

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Osteogenesis imperfecta refers to a group of genetic disorders that affects the bones, make them weak, and lead to easy fracture. It is caused due to the presence of defective genes in the individual that affect how the body produces collagen.

ICD-10 code: G23. Chapter: Diseases of the nervous system. Info: Other degenerative diseases of basal ganglia The basal ganglia are a group of structures located deep within the brain that are responsible for controlling a variety of motor functions. In addition to Parkinson's disease, there are several other degenerative diseases that can affect the basal ganglia. Huntington's disease: This is a genetic disorder that causes the progressive breakdown of nerve cells in the brain

Sickle cell anemia is blood associated genetic disorder in which the shape of red blood cells becomes crescent-like. Other than that the cells lose their ability to absorb oxygen causing several complications in the human body.

This is an example of dominate and recessive genes. Dominate genes stay and recessive genes don't show up. Sometimes pairs of genes from mom and dad mix and create a disorder.

Researchers from Iceland look at how parents' age and sex influences new genetic mutations in children that may lead to rare medical conditions.

What is the difference between Autosomes and Sex Chromosomes? Autosomes determine the somatic characters of an individual; sex chromosomes determine the sex.

Researchers from the University of California in Berkeley have pinpointed two genes involved in the digestion of fat that may have been key to helping humans thrive in harsh environments.