About this Research Topic

Background

Nearly one in every hundred newborn babies suffers from a life-threatening genetic disorder at the time of birth or is afflicted in the first years of their life. These genetic disorders include a wide spectrum of diseases with relatively common pathologies like thalassemia, sickle cell anemia, hemophilia, glucose-6 phosphate dehydrogenase deficiency, MS, JALS, neonatal diabetes, epilepsy and other neuronal diseases, rare disorders with ill-defined or poorly known mechanisms. While some in vitro and animal models are available to study, understand, and delineate some of these pathologies, however, lack of proper cell types, mechanical and physiological relevance of tissue architecture and inter-genome variability impede the clinical translation of drug therapies.

In recent times, to the best of our knowledge, there has not been a dedicated issue from any scientific journal to discuss different disease models for genetic and rare diseases in order to understand the lacunae in the field.
In this special edition, we will collect original studies, reviews, perspectives, and opinions to bring these important diseases into focus. The goal is to include studies on disease models constituting 2D monolayers, 3D cell cultures, microfluidics, and biomaterials in an effort to develop a global knowledge base, one that ventures beyond one's research comfort zone. This will help and encourage researchers from different backgrounds and fields of study to brainstorm and get inspired by an alternative approach to study a particularly rare or genetic disease for better therapeutic outcomes. The submissions to this special issue will be from scientists with diverse backgrounds ranging from cell and molecular biology, biochemistry, biophysics, pharmacology, biomaterials, regenerative medicine, 3D spheroids and microfluidics, bioprinting, and machine learning and artificial intelligence.

Modeling diseases using monolayers and complex artificial tissues have made important breakthroughs in human disease progression and treatment. However, a complete understanding with reliable complexity of genetic phenotypes for rare diseases is still an unmet need. Major roadblocks to successful drug discovery and drug development come from ‘individualistic’ understanding or perspective of these diseases leaving behind unanswered questions that could otherwise be studied and understood using a multidisciplinary approach.

In this special issue, emphasis will be placed on disease models focusing on novel biomarkers, new molecular probes, and advanced phenotypic screening. The submissions will include in vitro, in silico, and ex vivo systems using cell and molecular biology, biomaterials, 3D cell cultures, microfluidics, machine learning algorithms, and other multidisciplinary technologies. The focus will be on the characterization, optimization and speed-up of the understanding of genetic and rare disease models to overcome the limitations of traditional pharmacotherapy and enhance our understanding for a successful clinical translation.

Keywords: Rare genetic diseases, Disease models, Translational medicine, Regenerative medicine

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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