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  • Hereditary
  • The genes responsible for this defect are unknown, but the disease is studied in the hope that it may shed light on the causes of hereditary deafness in humans. (wikipedia.org)
  • The Cat Genome Project, sponsored by the Laboratory of Genomic Diversity at the U.S. National Cancer Institute Frederick Cancer Research and Development Center in Frederick, Maryland, aims to help the development of the cat as an animal model for human hereditary and infectious diseases, as well as contributing to the understanding of the evolution of mammals. (wikipedia.org)
  • Examples of this type of disorder are Huntington's disease, neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), Tuberous sclerosis, Von Willebrand disease, and acute intermittent porphyria. (wikipedia.org)
  • Syndromes
  • The institute also houses a genetic screening center for families afflicted with sudden death syndromes. (wikipedia.org)
  • Molecular Genetics - Using genetic sequencing techniques, scientists at the MMRL are studying inherited cardiac arrhythmia syndromes, including sudden cardiac death syndromes such as the Long QT syndrome, Short QT syndrome, Brugada syndrome and Early Repolarization syndrome. (wikipedia.org)
  • Stem Cell Research - This program is focused on generating induced pluripotent stem cells to be used in testing the safety and efficacy of new drugs, and also for the creation of human models of heart disease to improve understanding of arrhythmic syndromes and to custom design treatments and cures. (wikipedia.org)
  • Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome. (wikipedia.org)
  • Metabolisms
  • The high level of similarity among the metabolisms of mammals allows many of these feline diseases to be diagnosed using genetic tests that were originally developed for use in humans, as well as the use of cats in the study of the human diseases. (wikipedia.org)
  • Condition
  • The accumulation of fat in the walls of the gut in early onset disease leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food. (wikipedia.org)
  • human
  • In 1970 the world's first successful intended stem cell transplant for a previously fatal human disease. (wikipedia.org)
  • In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types of human genetic disease. (wikipedia.org)
  • His work showed that human genetic variation was not rare and disease-causing but instead was common and usually harmless. (wikipedia.org)