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Since 1987, the genetic basis of PWS has been the primary research focus of Nicholls. Beyond discovering genomic imprinting in human disease, additional major scientific discoveries in PWS include genetic subclasses, imprinted genes, DNA methylation, imprinting mechanisms, and cellular and animal models. He has also identified several other disease genes: oculocutaneous albinism type 2 (OCA2), the most common form of albinism worldwide especially for people in and of African origin; spastic paraplegia type 6 (SPG6); and mouse juvenile development and fertility (jdf2). Recent studies include work on transcriptional and miRNA regulatory networks in PWS and other genetic diseases. Over the past 20+ years, molecular, epigenetic, endocrine, and pathophysiological studies of animal models of PWS have been a focus. To identify the pathophysiological basis for PWS, he characterized the pig PWS-imprinted genomic domain and developed swine models of PWS using CRISPR/Cas9 genome editing. Similarly, a second, genome-edited pig model was developed for phenylketonuria (PKU). The porcine models of PWS and PKU provide suitable preclinical models for understanding PWS and PKU neuropathophysiology and to explore new therapeutics.
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GEOLOGICAL MAGAZINEno. 1 (2022): 146-166
Rachel M Wolfe,Al-Walid Mohsen, Cate Walsh Vockley,Carol A Bertrand,Robert D Nicholls,Paige Heiman, Leah M Seibold,Jerry Vockley,Lina Ghaloul-Gonzalez
biorxiv(2021)
crossref(2021)
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