Genetic Defects
Genetic Defects - Related Videos
08:50
Genetic Screens
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2023
Genetic screens are critical tools for defining gene function and understanding gene interactions. Screens typically involve mutating genes and then assessing the affected organisms for phenotypes of interest. The process can be “forward”, where mutations are generated randomly to identify unknown genes responsible for the phenotypes, or it can be “reverse”, where specific genes are targeted for mutation to observe what phenotypes are produced.Here, JoVE reviews various types of genetic...
09:34
Visualizing Angiogenesis by Multiphoton Microscopy In Vivo in Genetically Modified 3D-PLGA/nHAp Scaffold for Calvarial Critical Bone Defect Repair
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Cited by 12 •
2017
Here, we present a protocol to visualize blood vessel formation in vivo and in real-time in 3D scaffolds by multiphoton microscopy. Angiogenesis in genetically modified scaffolds was studied in a murine calvarial critical bone defect model. More new blood vessels were detected in the treatment group than in controls.
10:04
An Overview of Genetic Analysis
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2023
An organism’s physical traits, or phenotype, are a product of its genotype, which is the combination of alleles (gene variants) inherited from its parents. To varying degrees, genes interact with each other and environmental factors to generate traits. The distribution of alleles and traits within a population is influenced by a number of factors, including natural selection, migration, and random genetic drift.In this video, JoVE introduces some of the foundational discoveries in genetics,...
09:06
An Introduction to Developmental Genetics
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2023
Development is the complex process through which a single-celled embryo transforms into a multicellular organism. Developmental processes are guided by information encoded in an organism's DNA, and geneticists are trying to understand how this information leads to a fully formed organism. This video reviews seminal research in the field of developmental biology, including the identification of specific genes that control various embryonic processes. An introduction to the major questions asked...
01:23
Lumber Defects
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2024
Lumber defects, which can affect both the appearance and structural integrity of wood, include a variety of growth and manufacturing flaws. Growth defects such as knots and knotholes occur where branches were once attached to the tree trunk, with knotholes forming when these knots fall out. Other natural defects include decay and insect damage, which compromise the wood's strength and durability. Shakes are minor fractures that run along or across the wood's annual rings, while wane is...
FAQs
Different molecular changes can produce defects through distinct routes. A mutation in a coding sequence may alter the protein itself, while a regulatory change can modify when or how much of that protein is produced. Changes in chromosome number or DNA repair can also disturb cellular function, development, or physiology through broader effects.
Whether a change is germline or somatic determines its biological distribution and inheritance. Germline changes may pass to offspring, making them relevant to inherited risk. Somatic changes remain in particular tissues, so their consequences are linked to those tissues rather than transmission across generations. This distinction matters in biology and medicine.
The same DNA alteration cannot be interpreted fully from its sequence alone. Researchers connect the molecular change to altered protein amount or activity and then to observed effects on development or physiology. This gene-to-phenotype link helps explain how different genetic changes can produce distinct biological outcomes.
Investigations commonly combine sequencing, cytogenetic analysis, cell models, animal models, and functional assays. Sequencing examines DNA-level information, whereas cytogenetic analysis addresses chromosome structure; models provide biological systems in which effects can be studied, and functional assays test consequences. Using multiple approaches connects genetic findings with cellular, developmental, or physiological phenotypes.
These studies can connect molecular changes with phenotypes and improve understanding of gene function and human variation. In medical settings, the resulting knowledge supports disease diagnosis and risk assessment. It can also inform genetic counseling and the development of targeted treatments, linking basic biological investigation with decisions about health and disease.
Cell and animal models provide experimental settings for examining how a genetic change operates in living systems. When paired with functional assays, they help researchers test consequences beyond the initial DNA finding and relate them to development or physiology. This makes model-based analysis valuable for studying gene effects and biological mechanisms.