Biomaterial Database

Challenges in genetic testing for clinical trials of inherited and orphan retinal diseases. 2005

Edwin M Stone

Department of Ophthalmology and Visual Sciences, University of Iowa, Carver College of Medicine, IA, USA.

UI	MeSH Term	Description	Entries
D012164	Retinal Diseases	Diseases involving the RETINA.	Disease, Retinal,Diseases, Retinal,Retinal Disease
D002986	Clinical Trials as Topic	Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.	Clinical Trial as Topic
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015785	Eye Diseases, Hereditary	Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.	Hereditary Eye Diseases,Eye Disease, Hereditary,Hereditary Eye Disease
D025202	Molecular Diagnostic Techniques	MOLECULAR BIOLOGY techniques used in the diagnosis of disease.	Molecular Testing,Molecular Diagnostic Technics,Molecular Diagnostic Testing,Diagnostic Technic, Molecular,Diagnostic Technics, Molecular,Diagnostic Technique, Molecular,Diagnostic Techniques, Molecular,Diagnostic Testing, Molecular,Molecular Diagnostic Technic,Molecular Diagnostic Technique,Technic, Molecular Diagnostic,Technics, Molecular Diagnostic,Technique, Molecular Diagnostic,Techniques, Molecular Diagnostic,Testing, Molecular,Testing, Molecular Diagnostic
D035583	Rare Diseases	A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.	Orphan Diseases,Disease, Orphan,Disease, Rare,Orphan Disease,Rare Disease