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Nonetheless, further studies on a range of other types of pathogenic mutations and/or linked SNPs associated with common single-gene diseases are still required to determine the overall utility of cSMART for NIPT of monogenic diseases.
Lo focused on the future potential for Sequenom's technology to address the unmet needs in detection of monogenic diseases.
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia.
Other therapeutic development programs are focused on stem cell mobilization, ALS, cancer, HIV/AIDS, neuropathic pain, nerve regeneration, Parkinson's disease and monogenic diseases.
Nutrigenetics has been used for some time with respect to monogenic diseases such as phenylketonuria, which require specific dietary management alongside any clinical intervention.
Genes alone are vitally important; they are necessary but not sufficient to determine function or dysfunction in cells and organisms (the exceptions are the rare monogenic diseases discussed here).
The capacity to link genomic data on polymorphisms and mutations of specific genes with family histories and disease phenotypes has enabled medical scientists to identify the genes responsible for monogenic diseases such as cystic fibrosis, Duchenne's muscular dystrophy, and familial hypercholesterolemia.
Sangamo has entered into a strategic collaboration with Shire AG to develop therapeutics for hemophilia, Huntington's disease and other monogenic diseases and has established strategic partnerships with companies in non-therapeutic applications of its technology including Dow AgroSciences and Sigma-Aldrich Corporation.
The ability to combine in vitro fertilization with the selection of embryos devoid of a particular disease-causing mutation to overcome inherited monogenic diseases already exists.
This could potentially provide curative therapies for various monogenic diseases, including haemophilia and lysosomal storage disorders (LSD), such as Gaucher and Fabry disease.
SGMO) said on May 21 that data from clinical, preclinical and research-stage programs focused on the development of ZFP Therapeutics for HIV/AIDS, monogenic diseases and stem cell applications, were described in twelve presentations given by Sangamo scientists and collaborators at the recent American Society of Gene and Cell Therapy annual meeting in Philadelphia.
Genome technology company Sangamo BioSciences Inc (NASDAQ:SGMO) reported on Wednesday a collaboration and license agreement to develop therapeutics for hemophilia and other monogenic diseases based on its zinc finger DNA-binding protein (ZFP) technology.