Morton S and Henrietta K Sellner Professor of Human Genetics
Associate Professor of Human Genetics
Associate Professor of Pediatrics
Medical School
[email protected]
Available to mentor
Stephanie Bielas, PhD
Associate Professor
The Bielas lab leverages human neurogenetics to make novel discoveries about brain development, positioning our work at the intersection of basic science research and clinical care. The lab conduct translationally relevant functional studies in various species and tissue-types, which help demonstrate the molecular basis of neuropathology. Research in the Bielas lab can be categorized into three main themes: (1) human genetics of developmental disorders, (2) global disparities in access to genomic medicine, and (3) neurobiology of pathogenic mechanisms. Novel biological discoveries and resource development in each area facilitate functional studies that revealing novel biology, which when disrupted results in neurodevelopmental disorders and other impactful diseases.
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PhDUniversity of California, San Diego, 2007
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BSAndrews University, 1997
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Center MemberGlobal REACH
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Center MemberPrecision Health Initiative
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Center MemberCenter for Cell Plasticity and Organ Design
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Toolan KP, McGrath BT, Brinkmeier ML, Camper SA, Bielas SL. Brain, 2025 Jan 7; 148 (1): 55 - 68.Journal ArticleAsh1l loss-of-function results in structural birth defects and altered cortical development.
DOI:10.1093/brain/awae218 PMID: PMC11706301 -
Iegiani G, Pallavicini G, Pezzotta A, Brix A, Ferraro A, Gai M, Boda E, Bielas SL, Pistocchi A, Di Cunto F. Cell Death & Disease, 2025 Apr 21; 16 (1): 320Journal ArticleCITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6
DOI:10.1038/s41419-025-07655-4 -
Kaur N, do Rosario MC, Majethia P, Mascarenhas S, Rao LP, Nair KV, Hunakunti B, Prasannakumar AP, Naik R, Narayanan DL, Nayak SS, Bhat V, Sharma S, Ramesh Bhat Y, Yatheesha BL, Kulkarni R, Patil SJ, Nampoothiri S, Siddiqui S, Girisha KM, Bielas S, Shukla A. Am J Med Genet A, 2025 Mar; 197 (3): e63914Journal ArticleNeuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
DOI:10.1002/ajmg.a.63914 PMID: PMC7617591 -
Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure MV, Afenjar A, Qebibo L, Burglen L, Tomoum H, Demurger F, Duborg C, Siddiqui S, Tsan Y-C, Abdullah U, Ali Z, Saadi SM, Baig SM, Houlden H, Maroofian R, Padiath QS, Bielas SL, Shukla A. Brain, 2024 Dec 3; 147 (12): 4033 - 4042.Journal ArticleBiallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
DOI:10.1093/brain/awae299 PMID: PMC11733690 -
Khoa LTP, Yang W, Shan M, Zhang L, Mao F, Zhou B, Li Q, Malcore R, Harris C, Zhao L, Rao RC, Iwase S, Kalantry S, Bielas SL, Lyssiotis CA, Dou Y. Nature Communications, 2024 Dec 1; 15 (1):Journal ArticleCorrection to: Quiescence enables unrestricted cell fate in naive embryonic stem cells (Nature Communications, (2024), 15, 1, (1721), 10.1038/s41467-024-46121-1)
DOI:10.1038/s41467-024-46566-4 PMID: 38472240 -
Khoa LTP, Yang W, Shan M, Zhang L, Mao F, Zhou B, Li Q, Malcore R, Harris C, Zhao L, Rao R, Iwase S, Kalantry S, Bielas SL, Lyssiotis CA, Dou Y. Nature Communications, 2024 Dec 1; 15 (1):Journal ArticleQuiescence enables unrestricted cell fate in naive embryonic stem cells
DOI:10.1038/s41467-024-46121-1 PMID: 38409226 -
Ryan CW, Regan SL, Mills EF, McGrath BT, Gong E, Lai YT, Sheingold JB, Patel K, Horowitz T, Moccia A, Tsan YC, Srivastava A, Bielas SL. Nature Communications, 2024 Dec 1; 15 (1):Journal ArticleRING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis
DOI:10.1038/s41467-024-52292-8 PMID: 39256363 -
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Nature Communications, 2024 Sep 25; 15 (1):Journal ArticleTREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
DOI:10.1038/s41467-024-45948-y
Department News
Dr. Stephanie Bielas and Dr. Young Nam Park, honored with UMMS 2025 Endowment for Basic Sciences Awards
Medical School News
Nine Medical School faculty members and nine research staff members have been recognized for their contributions to teaching and research with Endowment for Basic Sciences (EBS) Awards for 2025. Each of the nine UMMS basic science departments select a winner for each award. This year’s recipients received their awards June 12 during a ceremony in the Medical School.
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
Department News
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
