monogenic disease


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Related to monogenic disease: Genetic diseases, autosomal dominant disorders, single gene disorder
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Noun1.monogenic disease - an inherited disease controlled by a single pair of genesmonogenic disease - an inherited disease controlled by a single pair of genes
SCID, severe combined immunodeficiency, severe combined immunodeficiency disease - a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life
cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis, CF - the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin
Huntington's chorea, Huntington's disease - hereditary disease; develops in adulthood and ends in dementia
dysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
neurofibromatosis, von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell disease - a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
infantile amaurotic idiocy, Sachs disease, Tay-Sachs, Tay-Sachs disease - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemia - an inherited form of anemia caused by faulty synthesis of hemoglobin
familial hypercholesterolemia - congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
References in periodicals archive ?
These data represent an important milestone in the progress of Sangamo's monogenic disease programs towards the clinic," stated Edward Lanphier, Sangamo's president and chief executive officer.
This has freed us from the past restriction for monogenic disease analysis where we could only look at the paternally-inherited mutations noninvasively.
hESC lines carrying a monogenic disease affecting the lung, such as cystic fibrosis, are available.
The second half of the text covers applications in more detail and offers chapters on quantitative analyses of DNA methylation, mitochondrial DNA analysis, real-time immuno-PCR, clinical microbiology and virology, solid organ transplant modeling,real-time-PCR applications in hematology, and prenatal diagnosis of monogenic disease caused by single nucleotide changes.
A Mendelian or monogenic disease is caused by a change in a single letter out of the 3.
In the former case, discovery efforts continue globally, and over time we will understand the primary genetic lesions that cause all monogenic disease.
We are delighted to be partnering the first of our monogenic disease programs with Shire, a company known for its development of innovative medicines for genetic diseases," said Edward Lanphier, Sangamo's president and chief executive officer.
With the recent acceptance of an IND for mRNA delivery of ZFNs in Sangamo's SB-728-T program, upcoming initiation of Phase 1 clinical testing of our hematopoietic stem-cell program for HIV (SB-728-HSC), and the unanimous approval of our Phase 1 ZFN Bcl11a program yesterday, at the NIH Recombinant Advisory Committee (RAC) meeting, keeping us on track to file an IND application for our beta-thalassemia program by the end of the year, we are realizing our goal of developing a new class of human therapeutics that have the potential to provide genetic cures for a range of monogenic diseases and unmet medical needs," added Mr.