As experts in the fieldwork on unlocking the secrets of our human genome, they found out that almost all diseases have a genetic component. Continuing their research, studying large numbers of biomolecular data advances their understanding of these genetic diseases hoping to find not just the cure, but an end to genetic disorders.
What Is Genetic Disease?
Genetic disease is a disorder or problem which is caused by one or more abnormalities in a person’s genome (genetic makeup). There’s a change in the DNA sequence that is not the same as the typical sequence. It is caused by mutation of single or multiple genes, or combination of mutation of genes and environmental factors. Damage in the chromosomes can also be a reason that causes a person to have a genetic disease.
Sometimes a genetic disorder is inherited from the parents. It could be single gene, multifactorial, or mitochondrial inheritance. Examples of single gene inheritance disorders are cystic fibrosis, Marfan syndrome, sickle cell anemia, Huntington’s disease, and hemochromatosis.
Genetic diseases caused by mutation of multiple genes combined with environmental factors are the common chronic diseases, such as coronary disease, high blood pressure, diabetes, arthritis, cancer, obesity, and Alzheimer’s disease.
Chromosomes are made of tightly coiled DNA around the proteins. It works like a messenger that carries our genetic material. Abnormalities in the chromosomes (typically due to cell division) can lead to the development of diseases like Turner syndrome, Klinefelter syndrome, Cri du chat syndrome (cry of the cat), Down syndrome.
Our Human Genome
The cells in our body are like a recipe book which contains instructions. These instructions are the genomes. The instructions then are made up of DNA. In the DNA, there are unique chemical codes. These codes are guides to our growth, development, and health. “Family histories are measures of inherited risks that are considered to have clinical value. Like the DNA sequence, family histories can be easily and noninvasively assessed before risk exposures accrue or symptoms manifest,” Daniel W. Belsky, PhD and co-authors explain.
Burden Of Genetic Diseases
Genetic diseases such as cancer, heart diseases, sickle cell disease, and even alcoholism have been a problem of the society for numbers of years. The National Cancer Institute released a data that in 2018, an estimate of 1,735,350 new cancer case will be diagnosed in the U.S. alone and around 609, 640 are about to die due to cancer.
Cancer and other genetic diseases are continuously robbing people a quality life, not only the person diagnosed, but their whole family. “Once these genes start causing problems it can be incredibly difficult to return to health because of the cascading effects they have on every part of the body,” Tchiki Davis, Ph.D. wrote.
Machine Learning Decodes
Scientists were able to decode how our DNA had played a significant role in seeking treatment for these genetic diseases. They collected an enormous amount of biomolecular data to understand the differences between normal and problematic cells. These became possible as they fed data from previous patients to the machine and allowed the computer to process, analyze, and compare these data to other data collected from people who don’t have such diseases.
They are, up to this date, trying to get a full view of the molecular changes that are happening in the problematic cells to create a better way to detect diseases early on and find better treatment methods through machine learning and AI.
“How does our fixed genome interact with the environment to change gene expression and physiologic function? When we find all the answers to this question, we will have solved a great many medical mysteries,” Emily Deans M.D. says.
Gene Therapy And Gene Editing
Bubble Boy (a 2001 comedy movie) is a story about a boy born with no immune system. Jimmy Livingston has no choice but to live and spend his life in a sterilized bubble. In real life, “Bubble Boy” David Vetter from Texas was born with SCID (severe combined immunodeficiency). Like Jimmy, he lived in a sterile plastic bubble until he succumbed to lymphoma at age 12, weeks after his bone marrow transplant.
SCID is a rare disease which is life-threatening where a child is born without or minimal immune system. We know for a fact that our immune system is essential as it protects us by fighting off infections. It is vital for our survival.
Bubble Boy has literally lived a sheltered life to protect himself from possible infections. Unlike David, kids with SCID can now lead a much better life after receiving experimental gene therapy. After David’s death, studies were done using his blood cells.
In 1993, the experts finally understood the mechanism of the disease leading to thinking that gene therapy (SCID-X1) could help children who can’t find a bone marrow donor. In 1999, an eight-month-old boy was the first to receive his own bone marrow that carries a healthy SCID-X1 gene. Of the 20 boys who received gene therapy, 18 developed immunity, five had leukemia, and one died from it.
By now, SCID-X1 gene therapy has been said to be effective and safe. Those who received it was able to establish immunity without having leukemia.
Another genetic disease being studied is the sickle cell disorder which affects hemoglobin. Hemoglobin, which is a molecule found in the red blood cells, is responsible for delivering oxygen to different cells in the body. A single mutation in the hemoglobin (hemoglobin S) causes red blood cells to have distorted shape, sickle or crescent shape. This can get stuck up in the capillaries that could result in clogging. A person with this disorder can suffer from severe pain, organ failure, and when it occurred in the brain could end up to stroke.
Researchers are working on trying to reverse the mutation through gene editing not just to treat the symptoms but to cure the genetic disease itself.
Bioinformatics has made breakthroughs in finding ways to correct problems in our genes. Hundreds of researchers, engineers, technicians, and experts in the field of medicine and mathematics have worked for decades to developing methods to end the sufferings of those inflicted with the genetic diseases. It may take hundreds of decades more to ultimately find the answer that will end the genetic disease, but thanks to them who have opened the door that will allow future generations to successfully edit, replace, and change the problematic genes in the body and finally prove that the Earth is indeed round.
Hadhazy, A. (2017, September 22). Bioinformatics points the way to treating deadly pancreatic cancer. Retrieved from https://www.princeton.edu/news/2017/09/22/bioinformatics-points-way-treating-deadly-pancreatic-cancer.
Lewis R. (2014, October 9). SCID-X1gene therapy, take 2. Retrieved from https://blogs.plos.org/dnascience/2014/10/09/good-guy-virus-scid-x1-gene-therapy-take-2/.