Genetic Disorders: What are They?

DNA, which makes up genes, is what gives you your distinctive characteristics and the instructions for how your cells should function.

A genetic disorder is a condition caused by harmful gene mutations, also called pathogenic variants, or an incorrect amount of genetic material. Genetic disorders can be caused by a single gene mutation, multiple gene mutations, environmental factors combined with gene mutations, or chromosome damage. While some start exhibiting symptoms at birth, others do so gradually.1  

Some genetic disorders include Down syndrome, Alzheimer’s disease, Arthritis, Autism spectrum disorder, Cancer, Sickle cell disease, and Isolated congenital heart defects.1

While a majority of genetic diseases are incurable, some of them are treatable. Despite the fact that there may not be a cure for some disorders, the disorders can be identified quickly in some cases, and different options may be available to help individuals in slowing down the genes responsible for them. One of the most groundbreaking technological advancements in medical genetics is Genome Editing!

So, What is gene or genome editing?

gene editing

Gene editing is “the ability to make highly specific changes in the DNA sequence of a living organism, essentially customizing its genetic makeup.”2 It entails changing the genes in your body’s cells to treat or prevent disease. Researchers can alter or silence a particular gene’s expression in plants, animals, and humans and reduce target effects using gene editing.3

It is possible to pass on large numbers of genetic disorders from one generation to the next, many of which are severe and incapacitating. The recent rapid development of genome editing has revolutionized the study of the human genome, allowing researchers to understand better how a single gene product contributes to an organism’s disease. Genome editing technologies have advanced quickly and demonstrated extraordinary utility in various fields, from fundamental research to practical biotechnology and biomedical study. These technologies are based on engineered or bacterial nucleases. 3,2

There are numerous methods for editing genes that coding has made possible, but CRISPR/Cas9 is a molecular tool that has made the most significant strides in recent years.4 The CRISPR/Cas9 platform has been used to develop three standard genome editing methods, which has produced encouraging results.4 It is being investigated in research and clinical trials for a wide range of illnesses like cancer, cystic fibrosis, blood disorders, and blindness. Additionally, it shows promise in managing and avoiding more complicated conditions like cancer, heart disease, mental illness, and HIV infection.5

In the future, with further research into this technology, genome editing methods may eventually be able to clarify the biological mechanisms that contribute to the progression of diseases. Through all of these revolutionary technological advancements, coding can help lead to improved treatments and novel discoveries in the life sciences.6 Computer code is a wonderful instrument that has the power to instruct, educate, and entertain while also being able to make the world a better place.

Visit BYJU’s Future School Blog to read more stories about the amazing possibilities that coding has created.

Disclaimer: The information provided on this site is NOT medical advice and is for informational purposes only. It is not intended to diagnose, provide medical or behavioral advice, treat, prevent, or cure any disease, condition, or behavior. You should consult with a qualified healthcare professional regarding your child’s development to make a medical diagnosis, determine a treatment for a medical condition, or obtain other related advice.

References:

  1. Genetic Disorders. (n.d.). Retrieved October 4, 2022, from https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders 
  2. gene editing | Definition, History, & CRISPR-Cas9 | Britannica. (n.d.). Retrieved October 4, 2022, from https://www.britannica.com/science/gene-editing 
  3. Genome-Editing Technologies: Principles and Applications – PMC. (n.d.). Retrieved October 4, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131771/ 
  4. CRISPR: Is It Possible to Remove Disease From DNA? (n.d.). Retrieved October 4, 2022, from https://www.webmd.com/a-to-z-guides/news/20170406/crispr-is-it-possible-to-remove-disease-from-dna 
  5. Eight Diseases That CRISPR Technology Could Cure. (n.d.). Retrieved October 4, 2022, from https://www.labiotech.eu/best-biotech/crispr-technology-cure-disease/ 
  6. Vargas, G. (2022). Human Disease Using CRISPR Gene Editing and Gene Addition Techniques. https://doi.org/10.35248/2329-6682.22.11.196 
Coding, Life with Coding