Research Topic

What does Human Pathology Bring to the Understanding of the Fundamental Mechanisms of Development?

About this Research Topic

Brain development begins in the 3th gestational week and extends throughout the pregnancy and first years of postnatal life. It involves complex processes that are particularly vulnerable and that can lead to a wide spectrum of malformations and disturbances, often associated with serious clinical morbidities. The frequency of brain abnormalities during embryonic development is estimated to affect about 3 pregnancies out of 1000. Despite fetal ultrasound and MRI imaging techniques, which have known an extraordinary progress allowing the diagnosis of quite early brain malformations, neuropathological analysis remains a powerful tool for the diagnosis of fetal brain abnormalities providing important cues for understanding their pathogenic mechanisms and etiologies.

In this Research Topic we propose to evaluate how human fetal brain pathology helps the understanding of the fundamental mechanisms of brain development. Our goal is the analysis of the pathophysiological mechanisms and molecular bases of brain malformations through the simultaneous analysis of neuropathological and fundamental (experimental) data.

We identify 3 aspects, depending on whether the human pathology enriches the fundamental data, confirms them or questions them, that organize the topic in 3 complementary sections:

1) The discovery of genes involved in human pathologies helps the understanding of developmental mechanisms. This section could group articles on genes that are involved in brain malformations or developmental neurological disorders and that could play a role on neurogenesis, neuronal migration, neuronal differentiation or synaptogenesis.

2) Pathological data interpretation depends on experimental models proposed by basic science. This section could include articles targeting the normal forebrain regionalization and analyzing neural tube defects and the holoprosencephaly.

3) Human pathology questions the mechanisms of development and proposes alternative hypothesis. This section could include contributions targeting for example the sulcation or ciliopathies.


Keywords: Brain development, Developmental defects, Fetal and pediatric neurological disorders


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Brain development begins in the 3th gestational week and extends throughout the pregnancy and first years of postnatal life. It involves complex processes that are particularly vulnerable and that can lead to a wide spectrum of malformations and disturbances, often associated with serious clinical morbidities. The frequency of brain abnormalities during embryonic development is estimated to affect about 3 pregnancies out of 1000. Despite fetal ultrasound and MRI imaging techniques, which have known an extraordinary progress allowing the diagnosis of quite early brain malformations, neuropathological analysis remains a powerful tool for the diagnosis of fetal brain abnormalities providing important cues for understanding their pathogenic mechanisms and etiologies.

In this Research Topic we propose to evaluate how human fetal brain pathology helps the understanding of the fundamental mechanisms of brain development. Our goal is the analysis of the pathophysiological mechanisms and molecular bases of brain malformations through the simultaneous analysis of neuropathological and fundamental (experimental) data.

We identify 3 aspects, depending on whether the human pathology enriches the fundamental data, confirms them or questions them, that organize the topic in 3 complementary sections:

1) The discovery of genes involved in human pathologies helps the understanding of developmental mechanisms. This section could group articles on genes that are involved in brain malformations or developmental neurological disorders and that could play a role on neurogenesis, neuronal migration, neuronal differentiation or synaptogenesis.

2) Pathological data interpretation depends on experimental models proposed by basic science. This section could include articles targeting the normal forebrain regionalization and analyzing neural tube defects and the holoprosencephaly.

3) Human pathology questions the mechanisms of development and proposes alternative hypothesis. This section could include contributions targeting for example the sulcation or ciliopathies.


Keywords: Brain development, Developmental defects, Fetal and pediatric neurological disorders


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

30 September 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

30 September 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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