Study Reveals How ASPM Gene Causes Microcephaly
Researchers found that mutations in the ASPM gene disrupt development of neural stem cells in the developing human brain.
Updated on Nov. 9, 2026 in Life Sciences
Researchers at VIB and KU Leuven identified how mutations in the ASPM gene disrupt the development of neural stem cells in the human brain. The findings, published in Developmental Cell, explain how these mutations lead to microcephaly, a condition marked by an abnormally small brain and head.
Why it matters
Microcephaly is most often caused by ASPM mutations, and patients are born with significantly smaller brains and suffer cognitive impairment. Mouse models carrying the same mutation do not show a smaller brain, suggesting humans are uniquely sensitive to this disruption.
The study used human cortical organoids, three-dimensional models that mimic aspects of the developing brain, to compare patient-derived cells with matched controls. Mice carrying the same ASPM mutation did not develop a smaller brain, while the functional role of outer radial glia cells in brain development is still unclear.
The players
VIB-KU Leuven Center for Neuroscience
A research center in Belgium jointly run by the Flemish Institute for Biotechnology (VIB) and KU Leuven, focused on brain and nervous system research.
The details
Mutations in ASPM cause premature displacement and impaired specification of outer radial glia cells, a neural progenitor population that expands in the human fetal brain. Humans appear particularly vulnerable because the cellular process controlled by ASPM has become especially important during human brain expansion.
Timeline
Study published in Developmental Cell in November 2026.
The Big Picture
The findings show that organoid-based models can reveal human-specific developmental mechanisms that mouse models miss, extending the case for human cell systems in neuroscience. The discovery also highlights why ASPM-related microcephaly has been difficult to replicate in animal research.
Understanding how ASPM mutations disrupt brain development could inform future research into diagnosing and studying microcephaly. The work also suggests that human-specific cell models may be needed to study certain neurological conditions accurately.
The takeaway
Human-specific brain models can reveal developmental mechanisms that animal studies may overlook. Readers interested in neurological research should watch for follow-up work on outer radial glia cells.
Further reading
Explore more on Life Sciences research and how scientists study brain development.
