Publications | Lab Members
Overview of Reddy Lab
We are investigating how RNA dysfunction can cause neuromuscular disease and leveraging this knowledge to develop new therapeutic strategies. Our research is focused on myotonic dystrophy and on human ITPase enzyme deficiency using a combination of biochemical, cellular and genomic approaches.
Research
Ongoing Projects
Project 1
Microsatellite expansion disorders are a group of more than 60 neurological, neuromuscular and neurodegenerative diseases caused by expansions of simple DNA tandem repeat sequences (microsatellites). This group includes myotonic dystrophy types 1 and 2, caused by a CTG and CCTG repeat expansion respectively, C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia, caused by a GGGGCC repeat expansion and Huntington disease caused by a CAG expansion. These repeats form toxic RNA molecules that lead to many detrimental downstream cellular consequences. We aim to understand how these toxic RNA molecules are regulated within the cell and to leverage this knowledge to design therapeutic strategies for the associated disorders.
Project 2
Human ITPase enzyme deficiency can result in severe developmental anomalies and is typically fatal in childhood with dilated cardiomyopathy as a major cause of death. The ITPase enzyme prevents accumulation of inosine and deoxyinosine triphosphate within NTP and dNTP pools. In the absence of ITPase, inosine accumulation can result in misincorporation into RNA and DNA. While the biochemical activity of ITPase is well understood, the molecular and cellular basis of pathogenesis resulting from ITPase dysfunction is unknown. We are studying the molecular and cellular consequences of ITPase dysfunction during development to better understand this rare genetic condition and to better understand gene networks that are active during normal healthy development that may be disrupted due to inosine misincorporation.
Reddy Lab Publications
Selected Publications
Selected Publications
Modified Polycyclic Compounds Rescue Mis-splicing in Myotonic Dystrophy Type 1 Disease Models
Jesus A. Frias, Sawyer M. Hicks, Hormoz Mazdiyasni, Subodh K. Mishra, Kahini Sarkar, Clara Yeboah, Noah M. LeFever, Marina M. Scotti, Hana Zeghal, Naomi Brandt, Sweta Vangaveti, Pramita Chakma, Ting Wang, Tammy S. Reid, Omari McMichael, Christopher Crumbaugh, Marina Provenzano, Melissa A. Hale, John D. Cleary, Nicholas E. Johnson, Eric T. Wang, Kaalak Reddy, J. Andrew Berglund.
ACS Chem Biol., 2026, doi: 10.1021/acschembio.5c00790
Subodh K. Mishra, Sawyer M. Hicks, Jesus A. Frias, Jing Zhang, Mark T. Handley, Sweta Vangaveti, Tammy S. Reid, Aradhana Pandey, Omari McMichael, Christopher Crumbaugh, Marina Provenzano, Melissa A. Hale, Nicholas E. Johnson, Masayuki Nakamori, John D. Cleary, Kaalak Reddy, J. Andrew Berglund.
NAR Mol Med., 2026, doi: 10.1093/narmme/ugag007
Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1
Jiss M Louis, Jesus A Frias, Jacob H Schroader, Lindsey A Jones, Emily E Davey, Claudia D Lennon, Jacob Chacko, John D Cleary, J Andrew Berglund, Kaalak Reddy
Human Molecular Genetics, 2024, ddae125
The unusual structural properties and potential biological relevance of switchback DNA
Bharath Raj Madhanagopal, Hannah Talbot, Arlin Rodriguez, Jiss Maria Louis, Hana Zeghal, Sweta Vangaveti, Kaalak Reddy, Arun Richard Chandrasekaran
Nature Communications, 2024, s41467-024-50348-3
Jacob H Schroader, Mark T Handley, Kaalak Reddy
WIREs RNA, 2023, wrna.1790
Disease-associated inosine misincorporation into RNA hinders translation
Jacob H Schroader, Lindsey A Jones, Ryan Meng, Hannah K Shorrock, Jared I Richardson, Sharon M Shaughnessy, Qishan Lin, Thomas J Begley, J Andrew Berglund, Gabriele Fuchs, Mark T Handley, Kaalak Reddy
Nucleic Acids Research, 2022, gkac709
CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity
Barbara A Perez, Hannah K Shorrock, Monica Banez-Coronel, Tao Zu, Lisa EL Romano, Lauren A Laboissonniere, Tammy Reid, Yoshio Ikeda, Kaalak Reddy, Christopher M Gomez, Thomas Bird, Tetsuo Ashizawa, Lawrence J Schut, Alfredo Brusco, J Andrew Berglund, Lis F Hasholt, Jorgen E Nielsen, SH Subramony, Laura PW Ranum
EMBO Mol Med (2021)e14095
Reddy K, Jenquin J, McConnell O, Cleary JD, Richardson JI, Pinto BS, Haerle MC, Delgado E, Planco L, Nakamori M, Wang ET and Berglund JA
Proceedings of the National Academy of Sciences of the United States of America · October 15, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond E, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ and FitzPatrick DR
PLoS Genetics · March 11, 2019
Ribonuclease H2 mutations activate the cGAS-STING nucleic-acid sensing pathway
Mackenzie KJ, Carroll P, Lettice L, Tarnauskaite Z, Reddy K, Dix F, Revuelta A, Abbondati E, Rigby RE, Rabe B, Kilanowski F, Grimes G, Fluteau A, Devenney PS, Hill RE, Reijns MAM and Jackson AP
EMBO Journal · February 22, 2016
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie K, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin C, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS and Jackson AP
Nature Genetics · November 23, 2015
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability
Reddy K, Schmidt MH, Geist JM, Thakkar NP, Panigrahi GB, Wang YH and Pearson CE
Nucleic Acids Research · August 21, 2014
Reddy K, Zamiri B, Stanley SYR, Macgregor, RB and Pearson CE
The Journal of Biological Chemistry · April 05, 2013
Principal Investigator
Current Lab Members
Jimoni Kalita
Stem For Development Academic Research Bridge Fellow with Reddy Lab
The RNA Institute
Samuel Quaynor
Stem For Development Academic Research Bridge Fellow with Reddy Lab
The RNA Institute
Former Lab Members
Andrea Aguanno
Undergraduate Research Student (2024)
Mark Bratslavsky
Undergraduate Research Student (2025)
Jacob Chacko
Undergraduate Research Student (2024)
Ty Hamel
Reddy Lab Undergraduate (2022)
BSc 2023
Thomas Jambunathan
Cornell University BS 2018-2022, RNA Institute Undergraduate Summer Research Program
Lindsey Jones
Research Technician 2020 to 2022
Current Position: Research Scientist with New York State Department of Health, Wadsworth Center
Marufa Kasham
Reddy Lab Undergraduate (2022)
Jacob Schroader
PhD student 2020 to 2025
Current Position: Postdoctoral Fellow at Tufts Medical Center
Reddy Lab News
Nick Lane Presents at the second New York State Muscle Network Meeting
Nicholas Lane presented a talk titled Investigating the spliceosome as a modifier of congenital myotonic dystrophy at the second New York State Muscle Network Meeting.
Reddy and Fuchs Labs Awarded NIH R21 Award to Investigate ITPase Deficiency
Kaalak Reddy and Gabriele Fuchs were awarded an R21 exploratory grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development to investigate pathomechanisms of fatal ITPase deficiency using iPSC neuron and cardiomyocyte cell models.
Congratulations Natalie
Congrats to undergraduate research student Natalie Hinrichsen for winning a best poster award at the RNA Institute RNA Research Day for her work in generating myotonic dystrophy type 2 cell lines to be used for drug and genetic screening.