Medical Genetics Applications

Medical genetics applications use genetic and genomic information to understand, diagnose, manage, and prevent inherited and complex human diseases. They examine DNA sequence and chromosome changes through methods such as genetic testing, sequencing, karyotyping, and analysis of family inheritance patterns, linking variants to biological pathways and clinical traits. These approaches support diagnosis of rare disorders, risk assessment, carrier and prenatal screening, cancer predisposition evaluation, and selection of targeted treatments when a molecular cause is identified. By connecting genotype with phenotype, medical genetics improves clinical decision-making, informs genetic counseling, and advances precision medicine while emphasizing responsible interpretation and use of genetic data.

Medical Genetics Applications - Related Videos

Research

JoVE Journal - Biology

Genetic Barcoding with Fluorescent Proteins for Multiplexed Applications

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Cited by 4 •

2015

Since the discovery of the green fluorescent protein gene, fluorescent proteins have impacted molecular cell biology. This protocol describes how expression of distinct fluorescent proteins through genetic engineering is used for barcoding individual cells. The procedure enables tracking distinct populations in a cell mixture, which is ideal for multiplexed applications.

Wideband Optical Detector of Ultrasound for Medical Imaging Applications

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Cited by 4 •

2014

Optical detection of ultrasound is impractical in many imaging scenarios because it often requires stable environmental conditions. We demonstrate an optical technique for ultrasound sensing in volatile environments with miniaturization and sensitivity levels appropriate for optoacoustic imaging in restrictive scenarios, e.g. intravascular applications.

Education

JoVE Science Education - Advanced Biology

An Overview of Genetics and Disease

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2023

Many human diseases are associated with mutations or variations in genetic sequences. Some of these genetic variants are heritable, passed down from generation to generation, while others arise sporadically during an organism’s life and cause diseases such as cancer. Researchers are trying to identify and characterize these genetic alterations in the hopes of improving diagnosis and therapeutic options for patients.In this video, we will examine the history of genetic disease research, and...

Genetic Crosses

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2023

To dissect genetic processes or create organisms with novel suites of traits, scientists can perform genetic crosses, or the purposeful mating of two organisms. The recombination of parental genetic material in the offspring allows researchers to deduce the functions, interactions, and locations of genes. This video will examine how genetic crosses were influential in developing Mendel's three laws of inheritance, which form the basis of our understanding of genetics. One genetic crossing...

Characterization of Genetically Engineered Mesenchymal Stem Cells for Neurotherapeutic Applications

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2025

Source: Sharma, A. D., et.al. High Throughput Characterization of Adult Stem Cells Engineered for Delivery of Therapeutic Factors for Neuroprotective Strategies. J. Vis. Exp. (2015)This video demonstrates the process of characterizing transgenic mesenchymal stem cells engineered to express therapeutic neurotrophic factors. It outlines the steps involved in fixing, permeabilizing, and staining the cells with primary and secondary antibodies targeting a cell proliferation marker, followed by...

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