Human Induced Pluripotent Stem Cells in Rare Neurological Disorders: Opportunities and Challenges for Disease Modeling and Drug Discovery.
6 affiliations
- 1Department of Basic and Clinical Pharmacology and Toxicology Faculty of Medicine University of Rijeka Rijeka Croatia uniri.hr.
- 2Clinic of Neurology Clinical Hospital Center Rijeka Rijeka Croatia kbc-rijeka.hr.
- 3Research Center of the Quebec University Institute of Mental Health (CRIUSMQ) Laval University Quebec City Canada ulaval.ca.
- 4Center for Embryonic and Prenatal Precision Medicine (PRECISE) Division of Obstetrics and Gynecology Department of Clinical Science, Intervention and Technology Karolinska Institutet Stockholm Sweden ki.se.
- 5Center for Fetal Medicine Karolinska University Hospital Stockholm Sweden karolinska.se.
- 6Division of Clinical Microbiology Department of Laboratory Medicine Karolinska Institutet Stockholm Sweden ki.se.
Abstract
Rare disease is a condition that affects a small fraction of the population. In most cases, it has a known genetic cause but could also be associated with other contributing factors. As the affected individuals may exhibit diverse symptoms due to the genetic and phenotypic heterogeneity, non- or misdiagnosis of rare diseases is common. Their low incidence and prevalence present an obstacle to developing new therapies despite a major unmet need with only a few treatment options available. This is particularly relevant to rare neurological disorders as there are major difficulties in studying the mechanisms of initiation and progression of the central nervous system (CNS) disorders. Recent advances in biotechnology, specifically the use of human induced pluripotent stem cells (iPSCs) for modeling diseases, have been instrumental in providing a flexible platform that not only reflects the effects of genetic disturbances on the development of CNS disorders but also is capable of providing insights into complex multifactorial disorders. Whether the human iPSCs are harvested from the affected individuals or using the gene-editing tools on cells from healthy individuals, valuable models can now be made available for studying these orphan conditions. In this narrative review, we explore the benefits of using human iPSC models over the existing platforms of other primary cell lines and animal models for the disease modeling and drug discovery and discuss the limitations and future aspects of the iPSC use in the investigation of rare neurological disorders.
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BibTeX
@article{hrkac2026human,
title = {{Human Induced Pluripotent Stem Cells in Rare Neurological Disorders: Opportunities and Challenges for Disease Modeling and Drug Discovery.}},
author = {Anja Harej Hrkać and Valentino Rački and Andrej Belančić and Jasna Kriz and Dinko Vitezić and Jasenka Mršić-Pelčić and Ganesh Acharya and Mukesh Varshney and Kristina Pilipović},
journal = {Stem cells international},
year = {2026},
month = oct,
doi = {10.1155/sci/1130043},
url = {https://europepmc.org/article/MED/42910235},
note = {CC BY},
}
RIS
TY - JOUR
TI - Human Induced Pluripotent Stem Cells in Rare Neurological Disorders: Opportunities and Challenges for Disease Modeling and Drug Discovery.
AU - Anja Harej Hrkać
AU - Valentino Rački
AU - Andrej Belančić
AU - Jasna Kriz
AU - Dinko Vitezić
AU - Jasenka Mršić-Pelčić
AU - Ganesh Acharya
AU - Mukesh Varshney
AU - Kristina Pilipović
PY - 2026
DA - 2026/10/21
JO - Stem cells international
DO - 10.1155/sci/1130043
UR - https://europepmc.org/article/MED/42910235
AB - Rare disease is a condition that affects a small fraction of the population. In most cases, it has a known genetic cause but could also be associated with other contributing factors. As the affected individuals may exhibit diverse symptoms due to the genetic and phenotypic heterogeneity, non- or misdiagnosis of rare diseases is common. Their low incidence and prevalence present an obstacle to developing new therapies despite a major unmet need with only a few treatment options available. This is particularly relevant to rare neurological disorders as there are major difficulties in studying the mechanisms of initiation and progression of the central nervous system (CNS) disorders. Recent advances in biotechnology, specifically the use of human induced pluripotent stem cells (iPSCs) for modeling diseases, have been instrumental in providing a flexible platform that not only reflects the effects of genetic disturbances on the development of CNS disorders but also is capable of providing insights into complex multifactorial disorders. Whether the human iPSCs are harvested from the affected individuals or using the gene-editing tools on cells from healthy individuals, valuable models can now be made available for studying these orphan conditions. In this narrative review, we explore the benefits of using human iPSC models over the existing platforms of other primary cell lines and animal models for the disease modeling and drug discovery and discuss the limitations and future aspects of the iPSC use in the investigation of rare neurological disorders.
SN - 1687-966X
SN - 1687-9678
ER -