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Medical Genetics

The University of Chicago_052921C
[The University of Chicago]

- Overview

This is a particularly exciting time in medicine and human genetics. Medical genetics has gained a recognized role as the medical profession deals with the diagnosis, treatment and management of genetic disorders. 

Medical genetics is any application of genetic principles in the practice of medicine. This includes genetic research, genetic mapping of disease, diagnosis and treatment, and genetic counseling. Pharmacogenetics is the study of how drugs affect the body in terms of specific genetic backgrounds.

Human genetics provides important unifying concepts that clarify and unify all medical practice. Allow patients and their families to fully benefit from expanding genetic knowledge. All physicians and their colleagues in the health industry need to understand the fundamentals of human genetics.


 - Genomics Research

Genomics is the study of an organism’s genome, which is its complete set of DNA. Genomics research involves identifying and characterizing the genes and functional elements in an organism's genome and how they interact with each other. Genomics also studies the structure, function, evolution, mapping, and editing of genomes.

All living things have genomes, including single-cell bacteria, plants, animals, and humans. The human genome has been sequenced and contains more than 3 billion base pairs and approximately 25,000 genes.

Genomics research aims to understand the structure and function of genetic or epigenetic sequence information. This information can help researchers understand how genetic variations cause disease.

Deep Genomics developed an artificial intelligence model called BigRNA to predict how RNA expression is regulated. This model can be applied to a range of RNA therapeutic discovery tasks


- The Two Types of Genomics

The two types of genomics are structural genomics and functional genomics. Structural genomics involves the physical nature of genomes, including sequencing and mapping. Functional genomics involves studying the expression and function of the genome. 

Structural genomics aims to determine the structure of every protein encoded by the genome. Functional genomics aims to collect and use data from sequencing to describe gene and protein functions. 

Genomics is the study of genomes through analysis, sequencing, and mapping of genes. It can also involve the investigation of interactions between genes and between genes and the environment. 

Genomics is used for different purposes in the improvement of crop plants, human health, and livestock. Structural genomics is used in drug discovery and in protein on large scale.


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- Impact of Genetics on Health and Disease

It is estimated that 3-7% of the general population will be diagnosed with a recognized genetic disorder. This excludes common diseases such as cancer, diabetes, heart disease and mental illness. All diseases or medical conditions have a genetic component (with the exception of trauma). 

Understanding how variations in an individual's DNA influence disease and health is a central focus of genomic medicine. This knowledge can lead to:

  • Innovative approach to diagnosing disease
  • Early detection, by identifying genetic susceptibility to specific diseases
  • New treatments
  • Development of designer drugs targeting mutations or their products (pharmacogenomics)


- Medical Genetics

Medical geneticists specialize in medicine that involves the interaction between genes and health. They are trained to evaluate, diagnose, manage, treat and counsel people of all ages with genetic disorders. 

This specialist uses modern cytogenetic, molecular, genomic and biochemical genetic testing to assist in specialized diagnostic evaluations, implement needed therapeutic interventions, and provide genetic counseling and prevention through prenatal and preimplantation diagnosis. 

Medical geneticists plan and coordinate screening for genetic disorders involving single-gene and chromosomal disorders, congenital anomalies, inborn errors of metabolism, multifactorial disorders, and common disorders with a genetic component.


[More to come ...]


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