Human Disease Research

Human disease research is the systematic study of how diseases begin, develop, and affect the body, with the goal of improving prevention, diagnosis, and treatment. Researchers investigate genetic, molecular, cellular, environmental, and behavioral factors by combining patient data with laboratory methods, including cell cultures, animal models, genomic analysis, and clinical studies. This work reveals disease mechanisms, identifies biomarkers, and supports the development and evaluation of therapies. In biology, human disease research connects fundamental discoveries to medical practice, while advances in precision medicine and human-based experimental models continue to improve how researchers predict treatment responses and address unmet health needs.

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JoVE Journal - Medicine

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease

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Cited by 22 •

2012

Fibroblasts from patients carrying mutations in Parkinson's disease-causing genes represent an easily accessible ex vivo model to study disease-associated phenotypes. Live cell imaging gives the opportunity to study morphological and functional parameters in living cells. Here we describe the preparation of human fibroblasts and subsequent monitoring of mitochondrial phenotypes.

Immunohistochemical Detection of Lewy Bodies in a Diseased Human Brain Tissue Section

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2025

Incubate with hydrogen peroxide solution to inhibit endogenous peroxidases and prevent non-specific staining.

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

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Cited by 12 •

2012

Spectral Karyotyping (SKY) is an advanced cytogenetics technique to identify genomic and chromosomal aberrations. This technique takes advantage of chromosome painting probes, which allow classification of all chromosomes. SKY can also identify complex chromosome aberrations and segregation defects in mice and humans with various diseases, including polycystic kidney disease.

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Cited by 43 •

2019

The goal of this protocol is to outline the design and performance of in vivo experiments in Drosophila melanogaster to assess the functional consequences of rare gene variants associated with human diseases.

Ultrasound-guided Intracardiac Injection of Human Mesenchymal Stem Cells to Increase Homing to the Intestine for Use in Murine Models of Experimental Inflammatory Bowel Diseases

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Cited by 7 •

2017

Murine studies in models of colonic inflammation have demonstrated that a small percentage (1 - 5%) of mesenchymal stem cells (MSC) injected intravenously or intraperitoneally home to the inflamed colon1,2. This study shows that ultrasound-guided intracardiac injections of MSCs result in increased localization to the intestine.

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