Preprint / Version 1

Using Mendel’s Discoveries to Understand Simple Mendelian and Complex Genetic Disorders

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  • Sean Yu Independent Researcher

DOI:

https://doi.org/10.58445/rars.1230

Keywords:

Mendel, Genetic Disorders, Cancer

Abstract

This paper provides an overview of the concepts and application of Mendelian genetics relative to understanding and addressing contemporary genetics disorders. Mendel’s studies are first introduced and then his major findings are applied to simple Mendelian disorders using the autosomal recessive disorder of sickle cell disease, including both the sickle-cell trait and sickle-cell anemia. This paper then relates simple Mendelian disorders to complex disorders, discussing their general relationships and how scientists are using these relationships to further understand complex disorders. For instance, scientists use tools such as genome-wide association studies to better understand the genetic basis of cancer, a complex disorder. This paper reveals how Mendel’s findings have established a strong understanding of simple disorders that are now being used to investigate complex genetic disorders and develop treatments for them. These treatments are crucial to healthcare because complex disorders often affect many individuals and negatively affect their quality of life. By using established knowledge to create and improve treatments, researchers can help patients affected by complex disorders and improve the quality of life for these patients. 

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Posted

2024-06-22

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