Renata Pellegrino, Sequencing Director

Dr. Pellegrino joined Dr. Hakonarson at CAG in May 2010 as a PhD trainee in collaboration with Dr. Allan Pack at the Center for Sleep and Circadian Neurobiology at the University of Pennsylvania. She is the current Sequencing Director at CAG and oversees all next generation sequencing workflows. Dr. Pellegrino is responsible for all sequencing activities, such as library preparation, quality controls, sequencing and research and development (R&D).

Her research focuses on human genetics, specifically applied genomics, and advanced technologies. With more than ten years of experience in genetics and genomics research, she had acquired multiple skills in different molecular biology methods and several research fields.

Before joining CAG, Renata worked on several biomedical research projects, specifically focused on the genetics of sleep, genomics, and psychiatric genetics. Her primary focus has been in studying molecular changes caused by sleep deprivation and circadian disruption in humans and rodents. In addition, Renata worked as Field Application for Affymetrix technology for several years. She transitioned back to the academia and worked as Lab Manager of the first Core Facility for microarrays in South America (Brazil).

She received her research training form the University of Pennsylvania's Center for Sleep and Respiratory Neurobiology and from CHOP. She was also involved in the Hereditary Oncology improvement program for the National Bank of Tumors at the National Cancer Institute in Rio de Janeiro - Brazil, which concluded in 2010.

Renata has Master’s Degree in Molecular Genetics (2006) from Federal University in Sao Paulo, and her PhD in Science from the Universidade Federal de Sao Paulo (2012). She also received her B.S. in Biomedical Sciences (Major in Clinical Laboratory Sciences and Minor in Genetics from the Universidade Bandeirante de São Paulo (2003).


Key CAG Publications

Dr. Pellegrino was lead author on a CAG and UPENN study that led to the discovery of a new mutation in the DEC2 gene involving sleep phenotypes. As study lead, Dr.Pellegrino also uncovered a novel variant in a clock related gene, BHLHE41 (basic helix-loop-helix family member e41) that is associated with short sleep, high EEG delta power and resistance to the behavioral effects of sleep deprivation. This work was highlighted on several major media outlets, including NPR (WNYC), The BBC, and the Daily Telegraph.

A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.
Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI.
Sleep. 2014 Aug 1;37(8):1327-36. doi: 10.5665/sleep.3924.

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.
Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, Kim C, Connolly J; AGP Consortium, Glessner J, Hakonarson H.
Nat Commun. 2014 Jun 13;5:4074. doi: 10.1038/ncomms5074.

Whole blood genome-wide gene expression profile in males after prolonged wakefulness and sleep recovery.
Pellegrino R, Sunaga DY, Guindalini C, Martins RC, Mazzotti DR, Wei Z, Daye ZJ, Andersen ML, Tufik S.
Physiol Genomics. 2012 Nov 1;44(21):1003-12. doi: 10.1152/physiolgenomics.00058.2012. Epub 2012 Sep 4.

Other CAG Publications**

**An updated list of publications is available at My NCBI Collections.

Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.
Araujo AN, Moraes L, França MI, Hakonarson H, Li J, Pellegrino R, Maciel RM, Cerutti JM.
J Clin Endocrinol Metab. 2014 Jun;99(6):E1104-12. doi: 10.1210/jc.2013-2993. Epub 2014 Mar 6.

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.
Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, Kim C, Thomas K, Wang F, Otieno FG, Ho K, Christensen GB, Li D, Prekeris R, Lambert CG, Hakonarson H, Leppert MF.
Mol Autism. 2014 Jan 27;5(1):5. doi: 10.1186/2040-2392-5-5.

Sleep is not just for the brain: transcriptional responses to sleep in peripheral tissues.
Anafi RC, Pellegrino R, Shockley KR, Romer M, Tufik S, Pack AI.
BMC Genomics. 2013 May 30;14:362. doi: 10.1186/1471-2164-14-362.

Apolipoprotein E polymorphisms and sleep quality in obstructive sleep apnea syndrome.
Pellegrino R, Mazzotti DR, Guindalini C, Santos-Silva R, Bittencourt LR, Tufik S.
Clin Chim Acta. 2011 Nov 20;412(23-24):2223-7. doi: 10.1016/j.cca.2011.08.007. Epub 2011 Aug 12.

Effects of the adenosine deaminase polymorphism and caffeine intake on sleep parameters in a large population sample.
Mazzotti DR, Guindalini C, Pellegrino R, Barrueco KF, Santos-Silva R, Bittencourt LR, Tufik S.
Sleep. 2011 Mar 1;34(3):399-402.

Influence of genetic ancestry on the risk of obstructive sleep apnoea syndrome.
Guindalini C, Colugnati FA, Pellegrino R, Santos-Silva R, Bittencourt LR, Tufik S.
Eur Respir J. 2010 Oct;36(4):834-41. doi: 10.1183/09031936.00146809. Epub 2010 Mar 11.

Hormonal profile, the PROGINS polymorphism, and erectile dysfunction complaints: data from a population-based survey.
Andersen ML, Alvarenga TA, Mazzotti DR, Guindalini C, Pellegrino R, Barrueco KF, Santos-Silva R, Bittencourt LR, Tufik S.
Fertil Steril. 2011 Feb;95(2):621-4. doi: 10.1016/j.fertnstert.2010.10.012. Epub 2010 Nov 20.