Genetics have a crucial role in forming who we are.
Cells are the basic working units of every living system. All the instructions needed to direct their activities are contained within the chemical DNA.
The fusion of the sperm (with 23 chromosomes) and the oocyte (with 23 chromosomes) at fertilization results in a live human being, a single-cell human zygote, with 46 chromosomes. This new single-cell human being immediately produces specifically human proteins and enzymes and genetically directs his/her own growth and development as a unique individual.
Furthermore, experimental studies have showed that genetics also regulates fetal development. Genetic issues such as inherited diseases and chromosomal anomalies have enormous influence on how a child develops.
Massive information has been generated from ongoing research in the field of genetics. Consequently, today we know the structure of the human genome and many inherited disorders.
Inherited recessive, dominant and sex linked genes determine the mode of transmission of various characteristics to the fetus.
Many of the characteristics of the developing embryo are encoded in the genes.
So, how is it that all cells have identical genomes and yet have non identical fates in development?
During early embryonic development, the size of the embryo does not change while the number of cells increase exponentially. That means that at a very early stage all cells are identical and can adopt any fate. Thus, the fate of cells is determined by qualitative and quantitative gene expression changes, that result from changes in endogenous and exogenous signaling.
Investigation of the role of chromosomes in human fetal growth and development has been mainly devoted to chromosomal abnormality.
Genes contain the instructions for growth and development. Some gene changes make the gene faulty so that the message is not read correctly or is not read at all by the cell.
A variation in a gene that makes it faulty is called a mutation or pathogenic variant.
Chromosomal disorders are due to chromosomal aberrations including numerical and structural damages. Molecular and cytogenetic techniques have been applied to identify mutations leading to diseases. DNA sequencing is a powerful technique that provides analysis of genes at the nucleotide level.
In recent years, Next-Generation Sequencing has allowed very high throughput of both qualitative and quantitative sequencing data.
Thanks to this high-speed performing technology, genetic screening tests have become an effective predictive and preventive tool available to everyone increasing healthcare standards around the world.
To find out more, read about Genoma’s Next Generation Sequencing platform: one of the most advanced genetic laboratory in Europe, managed by Dr. Thomas Rio Frio, PhD in Human Molecular Genetics.