Genetics Section Research Programs
The Genetics Division aims to establish a translational research portfolio integrated into the Department of Pediatrics and College of Medicine. Our comprehensive program currently investigates the interplay between genetics and environment in scoliosis, alongside pioneering studies in optical genome mapping, among other cutting-edge projects.
Genetics Division Research Heading link
Enhancement of Newborn Screening Diagnostic Paradigms to Improve the Efficacy of Treatment for Krabbe Disease, Pompe Disease and Mucopolysaccharidosis Type 1
PI: Thomas Langan, MD, University of Buffalo
UIC Genetics Staff involved on the project: Dr. Anne Tsai (PI, Nov 2023), Erin Falsey (Genetic Counselor), Lindsay Pistorius (Genetic Counselor), Alexya Aguilera (Study Coordinator)
Evaluation and comparison of optical chromosomal mapping and long-read DNA sequencing platforms with standard chromosomal microarray analysis for clinical application
PI: Ulrich Broeckel, MD, Medical College of Wisconsin
UIC Genetics Staff: Dr. Philip Giampietro, Dr. Anne Tsai, Dr. Miguel Barajas, Sara Acosta-Villanueva (Genetic Counselor), Alexya Aguilera (Study Coordinator)
TGen (Translational Genomics Research Institute)
PI: Manu Sood, MD, UICOM Peoria)
Genetic Diagnosis of rare disorders
UIC Genetics Staff: Miguel Barajas, MD
Genomic Analysis in Patients with Vertebral Malformation, Congenital and/or Idiopathic Scoliosis
Our team is interested in learning more about possible genetic changes occurring in patients with vertebral malformations (VM), congenital scoliosis (CS), and adolescent idiopathic scoliosis (AIS).
PI: Philip F. Giampietro; UIC
Contact: Interested patients should contact study coordinator via UI Health Research Registry link for more information
Genetics Division Faculty Heading link
Philip F. Giampietro
Email:
Anne Tsai
Email:
Miguel Barajas
Phone:
Email:
Genetics Division Publications Heading link
- Tsai AC, Lin HT, Chou M, Bolen J, Zimmerman C, DeMarzo D, Enchautegui-Colon Y. Compound heterozygous variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase gene causing severe Isovaleric acidemia with hyperammonemia. Molecular Genetics and Metabolism Reports. 2022 Mar 19;31 PMID 35782626
- Andrew K Sobering , Laura M Bryant , et al., Anne Chun-Hui Tsai , Katherine R Yearwood , Elysa Marco , Catherine Nowak , Jessica Douglas , Hakon Hakonarson , Elizabeth J Bhoj Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology. HGG Adv. 2022 Mar 26;3(3):100102.
- Hsin-Ti Lin Yazmin Enchautegui-Colon , Yu-Ren Huang , Chelsea Zimmerman , Danielle DeMarzo , Anne Chun-Hui Tsai Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned 2022 Nov 26;33:100942. PMID: 36466970
- Chen-Han Wilfred Wu , Jad Badreddine , Joshua Chang , Yu-Ren Mike Huang , Fernando J Kim , Trevor Wild , Anne Chun-Hui Tsai , Naomi Meeks , Rodrigo Donalisio Da Silva , Wilson R Molina , Fredrick R Schumacher. Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain, Urolithiasis 2023 Aug 10;51(1):101
- Scott K Ward , Alexandrea Wadley , Chun-Hui Anne Tsai , Paul J Benke , Lisa Emrick , Kristen Fisher, Kimberly M Houck, Hongzheng Dai ; Undiagnosed Diseases Network; Maria J Guillen Sacoto , William Craigen , Kimberly Glaser , David R Murdock , Luis Rohena , Karin E M Diderich, Hennie T Bruggenwirth, Brendan Lee , Carlos Bacino, Lindsay C Burrage , Jill A Rosenfeld. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A 2024 Jan;194(1):17-30.
- Author, Children’s National Hospital, Rare Disease Institute, Coauthors: Miguel Barajas, MD, Christina Grant, MD, PhD & Tammana Roshan Lal, MBBS, “Differentiating Features of Storage Disease”
- Storage disease chapter book chapter to be included in upcoming, first-of-its kind Nelson Pediatric Textbook of Rare of Diseases (in review)
- Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. PMID: 37333224; PMCID: PMC10274907.
- Falsey E, Cirino AL, Snyder E, Steeves M, Lin AE. Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy. J Community Genet. 2022 Jun;13(3):263-270. doi: 10.1007/s12687-022-00588-x. Epub 2022 Apr 8. PMID: 35391658; PMCID: PMC9270542.