New Advances in Congenital Disorders—From Molecular Basis
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: closed (15 May 2024) | Viewed by 706
Special Issue Editors
Interests: congenital disorders; neurological disorders; rare diseases; medical writing
Interests: uveal melanoma; retinal capillary hemangioblastoma; Barrett esophagus and esophageal cancer; translational genetics; metabolomics; transcriptomics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Congenital disorders, also known as birth defects, can contribute to long-term disability, having profound impacts on patients, families, healthcare systems, and society. According to the World Health Organization, 240 000 newborns die every year within 28 days after birth, representing a considerable public health burden. Congenital disorders may be caused by genetic, nutritional, environmental, or infectious factors, but their etiology remains to be fully understood. Inevitably, the high heterogeneity of and unclear pathomolecular mechanisms beyond these genetic disorders give rise to a complex and challenging patient journey until a final diagnosis is achieved. Noteworthily, in recent years the advances in multi-omics techniques and high-throughput methodologies contributed to increasing data generation, paving the way for the successful development of novel biomarkers, the discovery of new diagnosis methods, and novel targeted therapies.
The main goal of this Special Issue, entitled “New Advances in Congenital Disorders – from Molecular Basis”, is to bring together new research by collecting original articles and reviews that provide novel insights related to genetics, diagnosis, biomarkers, mechanisms, and therapeutics related to birth defects.
Dr. Joana Poejo
Dr. Erwin Brosens
Guest Editors
Manuscript Submission Information
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Keywords
- congenital disorders
- birth defects
- genetic diseases
- biomarker discovery
- diagnosis
- development of therapeutics molecular mechanisms
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