Genetic and Genomic- A detailed review

Introduction

Genetics is the study of heredity or the process by which genes - the fundamental unit of heredity- transmit the traits that distinguish living things from one generation to the next. Gregor Mendel, an Augustinian priest and scientist, is credited with discovering many of the principles of genetics through his study of pea plants in the middle of the nineteenth century. In genetics, only a few known-to-have-a-function genes or gene segments are studied. The biomedical study aims to comprehend how genes direct bodily development, bring about disease, or influence a drug's response.

In contrast, genomics is the study of an organism's entire genome, consisting of all its genes. Genomics researchers examine huge amounts of DNA-sequence data using high-performance computers and maths methods known as bioinformatics to uncover changes that affect health, sickness, or treatment response. This entails looking through 23,000 genes and 3 billion DNA units in humans. The field of genomics is significantly more recent than genetics, having only recently been made possible by technological developments in DNA sequencing and computational biology.

In addition to genomics, JAX has experience in genetics. While researchers at The Jackson Laboratory for Genomic Medicine, our research site in Farmington, Connecticut, examine the human genome, scientists at our Bar Harbor, Maine, headquarters conduct fundamental, experimental genetics on mice. These researchers work together, and their diverse perspectives are crucial to identifying precise genetic treatments for human disease.

What Is Genetics?

The study of genes and their involvement in inheritance, or the process by which specific traits or conditions are passed down from one generation to the next, is called genetics. Science-based investigations into genes and their consequences are part of genetics. The instructions for creating proteins are included in genes (hereditary units), which control how cells behave, and the body works. Some inherited or genetic illnesses include phenylketonuria (PKU), Huntington's disease, and cystic fibrosis.

What Is Genomics?

The study of all of a person's genes (their genome), as well as how those genes interact with one another and with their environment, is known as genomics. This phrase is relatively modern. Because complex diseases like heart disease, asthma, diabetes, and cancer are often brought on by a combination of hereditary and environmental variables rather than by a single gene, genomics involves the scientific study of these conditions. New therapeutic and therapeutic options for some complex diseases are being made possible by genomics, along with novel diagnostic techniques.

Why Is Health Dependent On Genomics and Genetics?

Both genomics and genetics have an impact on health and disease. Genetics teaches people and families about the inheritance patterns of diseases like sickle cell anemia and cystic fibrosis, the screening and testing methods available, and the treatment choices for specific genetic illnesses.

Researchers are using genomics to understand better why certain people are more susceptible to specific illnesses, environmental variables, and behavioral patterns than others. For instance, many lead active lifestyles, consume nutritious food, and go for routine checkups but pass away from a heart attack at 40. Others consume bad meals, smoke, never exercise, and live to be 100 years old. In addition to accidents (such as falls, car accidents, or poisoning), genetic factors are involved in nine of the top ten killers in the US, including diabetes, cancer, and heart disease. The genetic makeup of every human being is 99.9% the same. Variations in the 0.1 percent that is left can reveal crucial information about the origins of diseases. To improve health and prevent disease, researchers use genomics better to understand the interactions between genes and the environment. For example, altering diet and exercise regimens can help people with genetic predispositions to type 2 diabetes avoid or delay the onset of the disease.

Why Are Genetics and Genomics Crucial To The Health Of The Family?

Knowing more about diseases brought on by a single gene (using genetics) and complex diseases brought on by numerous genes and environmental factors (using genomics) can help in early diagnosis, intervention, and focused treatment. Environmental circumstances and family history influence the health of an individual. As a result, family history is a valuable, unique tool that may be used to uncover various contributing variables to illnesses with a genetic component. A family's history can be the starting point for discovering the genetic and genomic disorders in the family and for creating tailored strategies for illness prevention, intervention, and treatment.

Which Modern Genetic and Genomic Methods and Technologies Are Available?

• Proteomics

  • The Greek word for all, every, or total is the source of the prefix "-ome." It first appeared in the term "genome," which describes every gene in an individual or other organism. The suffix "-ome" is being utilized in numerous scientific contexts due to the success of massive biology initiatives like human genome sequencing. An illustration is proteomics.

  • The instructions, or code, for constructing proteins are found in the DNA sequence of genes. This DNA is translated into an associated molecule called RNA, producing proteins. So, proteomics is a comparable comprehensive examination of all the proteins in a given organism, type of tissue, or cell (called the proteome). Certain aberrant proteins that cause diseases, such as some types of cancer, can be identified using proteomics.

• Pharmacogenetics and Pharmacogenomics

  • Pharmacogenetics is the branch of research that examines the variance in drug responses caused by variations in specific genes. Pharmacogenetics considers a person's genetic makeup concerning certain drug receptors and how the body transports and metabolizes medications.

  • Pharmacogenetics aims to provide customized medication therapies for optimal drug selection and dosage.

  • Pharmacogenetics aims to produce personalized medication therapy for optimal drug selection and dosage. Trastuzumab, which treats breast cancer, is one illustration (Herceptin).

  • Only women whose tumors have a specific genetic profile that causes an excess of the protein HER2 to be produced can benefit from this treatment. Genetics, Illness Prevention, and Therapy.

  • Pharmacogenomics is similar to pharmacogenetics, except that it frequently entails the hunt for gene variants linked to variability in medication response. Pharmacogenomics is a large-scale "omic" technology that can analyze the complete genome instead of only a few genes.

• Stem Cell Treatment

  • Two crucial traits define stem cells. To begin with, stem cells are unspecialized cells that have the potential to evolve into a variety of specialized body cells. Second, stem cells can replicate themselves in their unspecialized condition.

  • At a very early stage of development, the embryo produces embryonic stem cells (the blastocyst stage). All the body's cells are developed from the blastocyst's stem cells.

  • Adult stem cells originate from more developed tissues, such as skin, bone marrow, circulating blood, or the umbilical cord blood of infants.

• Cloning

  • Genes, cells, or entire organisms can be cloned. Any genetically identical cell in a population descended from a single common ancestor is called a clone in the context of cells.

  • For instance, when a single bacterial cell copies its DNA and divides hundreds of times, the cells that are produced will all have identical DNA and clones of the original bacterial cell.

  • Gene cloning involves modifications to create numerous identical clones of a single gene from the same progenitor gene. Making a genetically identical replica of each of an organism's cells, tissues, and organs is known as cloning. Two main categories of cloning may involve human beings or other species.

    • Therapeutic Cloning: Includes developing cloned tissues or cells from an individual, such as new liver tissue for a patient with a liver condition. Stem cells are frequently used in these cloning endeavors. A patient's bodily cell, such as a liver cell, will provide the nucleus for an egg that has already had its nucleus removed. A blastocyst will eventually result from this process, and the patient's genetic material can be used to make new tissue using the blastocyst's stem cells.

    • Reproduction Cloning: This is a related procedure that creates a complete animal with the same nuclear DNA as another animal that already exists or has existed. Frogs were the first creatures to be cloned. The well-known sheep Dolly is another example of cloning.

Conclusion

When referring to the interaction of pharmacology (the study of medications or pharmaceuticals) and genetic variability in determining an individual's response to certain treatments, the phrases "pharmacogenetics" and "pharmacogenomics" are sometimes used interchangeably.