Reference #: 1008329 SHIFT:Day (United States of America)

A Brief Overview Assume responsibility for an on-going, innovative research project as a Postdoctoral Fellow at CHOP. Our postdoc experience will broaden your skillset, scientific background, and research capabilities.

CHOP's Commitment to Diversity, Equity, and Inclusion CHOP is committed to building an inclusive culture where employees feel a sense of belonging, connection, and community within their workplace. We are a team dedicated to fostering an environment that allows for all to be their authentic selves. We are focused on attracting, cultivating, and retaining diverse talent who can help us deliver on our mission to be a world leader in the advancement of healthcare for children.

We strongly encourage all candidates of diverse backgrounds and lived experiences to apply.

Responsibilities * Participate in project planning, recording, and evaluation of data. * Conduct independent scholarly research, developing new methods and protocols under the guidance of a mentor (principal investigator). * Acquire technical, lab management, and grant writing skills. * Participate in seminars, lectures, poster sessions, national presentations, and professional workshops. * Supervise junior lab members. * Assist with other research projects as needed. Education Qualifications Doctorate (required)

About the Laboratory A postdoctoral fellow position is available in the laboratory of Dr. Xilma Ortiz-Gonzalez at the Center for Mitochondrial and Epigenomic Medicine at the Children's Hospital of Philadelphia (CHOP) and University of Pennsylvania (UPenn). Our laboratory uses a range of molecular and cellular biology, human cellular disease models (IPSc-derived neurons), and live imaging technologies to study the underlying disease mechanisms of monogenic pediatric neurodevelopmental and neurodegenerative disorders. The candidate will work closely with the other members of our diverse and vibrant research team. Publications we would like to highlight include:

• Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londono R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-Gonzalez XR. Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Neuroferritinopathy.HGG Adv. 2023 Sep 1;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. [Epub ahead of print] PubMed PMID:37660254; PubMed Central PMCID: PMC10510067.

• Tintos-Hernandez JA, Santana A, Keller KN,Ortiz-Gonzalez XR. Lysosomal dysfunction impairs mitochondrial qualitycontrol and is associated with neurodegeneration in TBCK encephaloneuronopathy.Brain Commun. 2021;3(4): doi:10.1093/braincomms/fcab215. PubMed PMID: 34816123

• Abdelmoumen I, Jimenez S, Valencia I, Melvin J, Legido A, Diaz-Diaz MM, Griffith C, Massingham LJ, Yelton M, Rodriguez-Hernandez J, Schnur RE, Walsh LE, Cristancho AG, Bergqvist CA, McWalter K, Mathieson I, Belbin GM,Kenny EE,Ortiz-Gonzalez XR, Schneider MC. Boricua Founder Variant in FRRS1LCauses EpilepticEncephalopathy With Hyperkinetic Movements.J Child Neurol. 2021 Feb;36(2):93-98. PubMed PMID: 32928027.

*Ortiz-Gonzalez XR, Tintos-Hernandez JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW,Crino PB, He M, Wallace DC, Bonnemann CG. Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.Ann Neurol. 2018 Jan;83(1):153-165. PubMed Central PMCID: PMC5876123.

Faculty page: Lab website: Full publication list: https://www.ncbi.nlm.nih.gov/myncbi/xilma.ortiz-gonzalez.1/bibliography/public/

Role of Rare Disease Community and Underserved Populations in our work: https://www.research.chop.edu/cornerstone-blog/community-at-center-of-rare-disease-research-for-tbck-syndrome. More links to press coverage of our work available on our lab website

CHOP is an equal-opportunity employer. Postdoctoral fellows are provided with comp ehensive benefits packageincluding eligible health insurance and retirement plan ( http://www.research.chop.edu/careers/working-research/benefits-information). CHOP and UPenn offer outstanding research and training environments. The lab is fully committed to the success and career development of every team member. Previous team members are currently working in both academic (universities, hospitals, etc.) and industry (pharmaceutical, biotech, etc.) positions.

Children's Hospital of Philadelphia is an equal opportunity employer. We do not discriminate on the basis of race, color, gender, gender identity, sexual orientation, age, religion, national or ethnic origin, disability or protected veteran status.