Robert D. Nicholls, DPhil

Professor of Pediatrics
Director, Birth Defects Laboratories

Dr. Rob Nicholls obtained his B.Sc. (Hons) undergraduate degree at the University of Melbourne (Australia), his doctorate (D.Phil.) at the University of Oxford (UK), and did his postdoctoral work at Boston Children’s Hospital/Harvard University where in 1987 he began his research on Prader-Willi syndrome (PWS). In 1989, his work first identified a role for genomic imprinting in human disease with the discovery of uniparental disomy in PWS. Dr. Nicholls’ career stops include the University of Florida (1990-1993), Case Western Reserve University (1993-2000), the University of Pennsylvania (2000-2005), and since 2005 to Pittsburgh. Career achievements include a PWSA (USA) lifetime achievement award in 2013 for his work on PWS, and in late 2013 he cycled from the Pacific Ocean to the Atlantic Ocean (across the sourthern USA) in 28 days to raise awareness and funds for PWS research.

His publications have ≥ 21,648 citations with a h-index = 71 (Google Scholar). Additional major scientific discoveries in PWS include genetic subclasses, imprinted genes including first bicistronic gene (encoding two proteins), DNA methylation imprints, imprinting mechanisms, and establishment of cell and animal models. The latter include β-cell (insulin secreting) and other in vitro models to dissect molecular and cellular mechanisms, in vivo mouse and swine models of PWS, and a novel synthetic biology platform for gene therapy encoding multiple genes. Dr. Nicholls’ lab also identified the OCA2 and SPG6 disease genes and mechanisms of DNA deletions in α-thalassemia as well as in PWS and Angelman syndrome.

Professional and Scientific Society Memberships

Prader Willi Syndrome Association (USA), 1988-Present
Angelman Syndrome Foundation, 1989-Present
Human Genome Organization (HUGO), 1991-Present
American Society of Gene and Cell Therapy, 2024-Present

Education & Training

BSc (Honors), Biochemistry, University of Melbourne, 1981
DPhil, Human Molecular Genetics, University of Oxford, 1986
Postdoctoral Research Associate, Human Genetics, Howard Hughes Medical Institute and Harvard Medical School, 1987-1989
Honorary Masters Degree, University of Pennsylvania, 2002

Selected Publications

Nicholls RD, Fischel‑Ghodsian N, Higgs DR (1987) Recombination at the human α‑globin gene cluster: sequence features and topological constraints. Cell 49: 369‑378. PMID: 3032452.

Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989) Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader‑Willi syndrome. Nature 342: 281‑285. PMID: 2812027.

Mascari MJ, Gottlieb W, Rogan P, Butler MG, Armour J, Jeffreys A, Waller D, Ladda R, Nicholls RD (1992) The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis. New Eng J Med 326: 1599-1607. PMID: 1584261.

Rinchik EM, Bultman SJ, Horsthemke B, Lee S-T, Strunk KM, Spritz RA, Avidano KAM, Jong MTC, Nicholls RD (1993) A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361: 72-76. PMID: 8421497.

Buiting K, Saitoh S, Groβ S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genetics 9: 395-400. PMID: 7795645.

Ji Y, Walkowicz MJ, Buiting K, Johnson DK, Tarvin R, Rinchik EM, Horsthemke B, Stubbs L, Nicholls RD (1999) The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking that is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum Mol Genet 8: 533-542. PMID: 9949213.

Gray TA, Saitoh S, Nicholls RD (1999) An imprinted, mammalian bicistronic transcript encodes two independent proteins. Proc Natl Acad Sci USA 96: 5616-5621. PMID: 10318933; PMCID: PMC21909.

Amos-Landgraf JM*, Ji Y*, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD(1999) Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 65: 370-386. PMID: 10417280; PMCID: PMC1377936.

Koppes EA, Redel BK, Johnson MA, Skvorak KJ, Ghaloul-Gonzalez L, Yates ME, Lewis DW, Gollin SM, Wu YL, Christ SE, Yerle M, Leshinski A, Spate LD, Benne JA, Murphy SL, Samuel MS, Walters EM, Hansen SA, Wells KD, Lichter-Konecki U, Wagner RA, Newsome JT, Dobrowolski SF, Vockley J, Prather RS, Nicholls RD (2020) A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing. JCI Insight, 5(20): e141523. PMID: 33055427; PMCID: PMC7605535.

Koppes EA, Johnson MA, Moresco JJ, Luppi P, Lewis DW, Stolz DB, Diedrich JK, Yates JR 3rd, Wek RC, Watkins SC, Gollin SM, Park HJ, Drain P, Nicholls RD (2023) Insulin secretion deficits in a Prader-Willi syndrome β-cell model are associated with a concerted downregulation of multiple endoplasmic reticulum chaperones. PLoS Genetics 19(4):e1010710. PMID: 37068109; PMCID: PMC10138222.

Full Publication List via NIH PubMed »