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Genes
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Feature Papers in Human Genomics and Genetic Diseases 2024
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Feature Papers in Human Genomics and Genetic Diseases 2024

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 25 December 2024 | Viewed by 1324

Special Issue Editor

Prof. Dr. Mariarosa Anna Beatrice Melone

E-Mail Website
Guest Editor
1. Department of Medical and Surgical Advanced Sciences Second Division of Neurology, Center for Rare Neurological and Neuromuscular Diseases & Inter University Center for Research in Neurosciences, University of Campania Luigi Vanvitelli, Naples, Italy
2. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA
Interests: genetics of rare neurologic and neuromuscular diseases; translational neurogenetics; clinical & molecular neurogenetics; applied stem cell biology; systems neuroscience; neuropathology and experimental neurobiology; nanotechnology in nutraceuticals and functional fods; roles of autophagy in neurodegenerative diseases; clinical neurology of adults and children
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue, entitled “Feature Papers in Human Genomics and Genetic Diseases 2024”, aims to collect high-quality review articles or research articles on all aspects of human health and disease, as well as the diagnosis, treatment, and prognosis of genetic disorders, and heritable or acquired cancers. It is dedicated to recent advances in the research area of genomics and genetics and comprises a selection of exclusive papers from the Editorial Board Members (EBMs) of the Human Genomics and Genetic Section, as well as invited papers from relevant experts. We also welcome senior experts in the field to contribute to this Special Issue. We aim to represent our Section as an attractive open access publishing platform for genomics and genetic research.

Prof. Dr. Mariarosa Anna Beatrice Melone
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetics of monogenic diseases and complex diseases
  • genotype–phenotype relationships
  • population genomics and genetic epidemiology
  • precision medicine
  • pharmacogenetics and pharmacogenomics
  • targeted genome editing
  • gene therapy and delivery systems
  • genetically engineered cell therapy
  • RNA- and small nucleic acid-based therapeutics
  • genetic testing and molecular diagnostics, biomarker development and application
  • genome-wide association studies
  • epigenetic therapy
  • developmental genetics, epigenetics, and epigenomics

Published Papers (1 paper)

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Research

20 pages, 4800 KiB  
Article
Single-Cell Transcriptomic Profiling Identifies Molecular Phenotypes of Newborn Human Lung Cells
by Soumyaroop Bhattacharya, Jacquelyn A. Myers, Cameron Baker, Minzhe Guo, Soula Danopoulos, Jason R. Myers, Gautam Bandyopadhyay, Stephen T. Romas, Heidie L. Huyck, Ravi S. Misra, Jennifer Dutra, Jeanne Holden-Wiltse, Andrew N. McDavid, John M. Ashton, Denise Al Alam, S. Steven Potter, Jeffrey A. Whitsett, Yan Xu, Gloria S. Pryhuber and Thomas J. Mariani
Genes 2024, 15(3), 298; https://doi.org/10.3390/genes15030298 - 26 Feb 2024
Cited by 1 | Viewed by 1116
Abstract
While animal model studies have extensively defined the mechanisms controlling cell diversity in the developing mammalian lung, there exists a significant knowledge gap with regards to late-stage human lung development. The NHLBI Molecular Atlas of Lung Development Program (LungMAP) seeks to fill this [...] Read more.
While animal model studies have extensively defined the mechanisms controlling cell diversity in the developing mammalian lung, there exists a significant knowledge gap with regards to late-stage human lung development. The NHLBI Molecular Atlas of Lung Development Program (LungMAP) seeks to fill this gap by creating a structural, cellular and molecular atlas of the human and mouse lung. Transcriptomic profiling at the single-cell level created a cellular atlas of newborn human lungs. Frozen single-cell isolates obtained from two newborn human lungs from the LungMAP Human Tissue Core Biorepository, were captured, and library preparation was completed on the Chromium 10X system. Data was analyzed in Seurat, and cellular annotation was performed using the ToppGene functional analysis tool. Transcriptional interrogation of 5500 newborn human lung cells identified distinct clusters representing multiple populations of epithelial, endothelial, fibroblasts, pericytes, smooth muscle, immune cells and their gene signatures. Computational integration of data from newborn human cells and with 32,000 cells from postnatal days 1 through 10 mouse lungs generated by the LungMAP Cincinnati Research Center facilitated the identification of distinct cellular lineages among all the major cell types. Integration of the newborn human and mouse cellular transcriptomes also demonstrated cell type-specific differences in maturation states of newborn human lung cells. Specifically, newborn human lung matrix fibroblasts could be separated into those representative of younger cells (n = 393), or older cells (n = 158). Cells with each molecular profile were spatially resolved within newborn human lung tissue. This is the first comprehensive molecular map of the cellular landscape of neonatal human lung, including biomarkers for cells at distinct states of maturity. Full article
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases 2024)
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