Genetic Disorders

“meduza”Illustrative diagram of tools used for studying genetics by Natasha Dzhola is licensed under CC BY-NC-ND 4.0

Ever wonder why some people have disabilities? Might be from an accident or they could have been that way since birth, but if they were born that way, the question would be why did this happen?

People from around the world fall victim to different birth defects, also known as genetic disorders. Some of the more common diseases are: Down Syndrome, Cystic Fibrosis, and Sickle Cell Anemia

But what is a genetic diesorder exactly and what can be done about it? Let’s dwelve into this more closely.

What Is a Genetic Disorder?

Illustration of molecules and DNA

A Genetic disorder is a condition caused by a mutation in the DNA or the abnormality in a person’s genome or genetic makeup.

There are about 6000 genetic disorders, which can be categorized by the following four types:

  • Single-gene mutation
  • Multiple genes mutations 
  • Chromosomal abnormalities
  • mitochondrial mutations

Single Gene Mutation

Single-gene mutation, (AKA Mendelian disorder, or monogenic inheritance) is the type of abnormality which occurs in a single gene’s DNA sequence. There are thousands of known single-gene disorders, but these diseases are not too common. Four examples follow.

  • A condition caused by acquiring a single defective gene from any one of the parents called Autosomal Dominant Inheritance.
  • A condition caused by acquiring one defective gene from each parent, forming a pair, called Autosomal Recessive Inheritance.
  • A condition caused by acquiring the defective gene from the female or x-chromosome, called X-Linked Inheritance. It is further divided into dominant or recessive.

Some common examples of a single-gene mutation are cystic fibrosis, sickle cell anemia, fragile X syndrome, Huntington’s disease, hemochromatosis, and Marfan syndrome.

Multiple Genes Mutation

The second category consists of genetic disorders caused by multiple genes mutations, (AKA polygenic inheritance, or multifactorial inheritance). This mutation occurs when more than one gene is altered and environmental factors also play a role. Some chronic diseases like heart conditions, high blood pressure, diabetes, obesity, arthritis, and Alzheimer’s disease are multifactorial disorders. Fatal diseases, like Breast cancer, are found to have genetic symptoms when mutations exists on the chromosomes. Each human has 23 pairs of chromosomes and they are numbered. In this case, if chromosomes 6, 11, 13, 14, 15, 17, and 22 are defective, the diseases mentioned above can occur.

Normally, a child often inherits characteristics and traits like hair, eye, skin color, height, and facial features due to multiple gene inheritance.  

Chromosomal abnormalities

Chromosomes contain genetic information and any abnormality in its structure can cause genetic disorders as mentioned. These abnormalities occur during the process of cell division. 

Mitochondrial Mutations

Each cell contains small round, rod-like structures called organelles. Some organelles are the nucleus, nucleolus, endoplasmic reticulum, Golgi apparatus, mitochondria, ribosomes, lysosomes, endosomes, and peroxisomes. Confused? Don’t worry. Just know that there are different parts of a cell called organelles.  

The diseases caused by a mutation such as a defection in the mitochondria would include Leber’s hereditary optic atrophy (LHON), myoclonic epilepsy with ragged red fibers (MERRF), mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Some Common Genetic Disorders 


Normally, there are 23 pairs of chromosomes present in the nucleus of a cell. A person suffers from Down syndrome when out of these 23 pairs, a part or the entirety of the 21st chromosome gets copied an extra time. Prenatal screening tests, like blood tests, are carried out during pregnancy to study the chromosomal material present in the mother’s blood. This is an effective method of finding out whether or not the newborn will have Down syndrome. 

This disorder causes physical and cognitive growth delays, mild to moderate intellectual disability, and special facial features. Small body frame, upward tilted eyes, and a low muscle tone are also some signs of Down syndrome. The Centers for Disease Control and Prevention (CDC) has announced that out of every 700 babies born in the U.S. at least one will suffer from this disorder. This disease also depends on the age of the mother: the greater the age, the higher the chances of this disorder.


It is a genetically inherited blood disorder in which the quantity of red blood cells in a person’s body is lower than normal and the body naturally produces a lesser amount of hemoglobin. This disease is caused by mutations in the DNA of cells that make hemoglobin. This disease hinders the flow of oxygen within the body. If both the parents contribute with a Thalassemia gene, there will be a 25% probability of the newborn acquiring this disease. The severe anemia necessitates regular blood transfusions and chelation therapy.

The symptoms of the disease may include slow growth, weakness, pale or yellowish skin, facial bone deformities, fatigue, dark urine, and abdominal swelling. 


This genetic disorder adversely affects the lungs, digestive tract and other vital organs of the body. Screening for cystic fibrosis is carried out in newborns and is diagnosed in the first month. The disorder targets the cells that are responsible for the production of mucus, digestive juices, and sweat. These secretions are generally slippery and thin, but the defective gene causing cystic fibrosis turns them thick and sticky. The lubricating juices start clogging the passageways, thus causing severe difficulties in the lungs and pancreas.


The genetic defects that cause Tay-Sachs disease are similar to that causing Down syndrome. In this disease, the 15th chromosome is repeated, making this disease fatal for children diagnosed with it.

Tay-Sachs is a rare genetic disorder which destroys the neurons in the brain and spinal cord. The newborn suffering from this disease will show no sign of abnormality during the initial three to six months. However, soon the infant starts losing his/her motor skills. The disease worsens with time and the patient suffers from seizures, vision and hearing loss, intellectual disability, and paralysis. Another characteristic sign of this disease is the cherry-red spot in the eye. This condition is fatal and most patients do not survive past their early childhood.

A Guide for Daily Water Consumption

Glass of Water” width=
Studies have been quite harmonious about the benefits of drinking water and the daily need for this natural nutrient, but how much is too much? There have been ongoing debates regarding the amount of water our bodies should consume.  

Let’s start out with an unequivocal YES to the question – is drinking a lot of water healthy? Water is the healthiest nutrient you can consume and here is no dispute on the vitality of water for human existence and survival. Experts agree that the more water you drink, the better it is for you, but with that said, even for an average healthy adult, there are disagreements on identifying the right amount of water to drink every day.  So let’s take a more detailed look at just how much water the average individual should consume each day.

Prevalence of the 8×8 Rule and Its Shortcomings

Most of us have heard the advice to drink eight glasses of water a day and it is good advice, especially if you are looking to lose weight.  If we delve into the details of this recommendation a bit more, a single glass of water should be eight ounces (around 230 millimeters), hence the term “8×8”. This suggestion roughly equates to the consumption of around two liters of H20 on a daily basis.

Even though this recommendation is extensively boasted by drinking water companies in their marketing and promotion campaigns, the truth of the matter is that there is no substantial evidence and research to validate this widespread advice.

In contrast, studies suggest that drinking this much water might not be healthy for a majority of individuals. For instance, one of the major flaws with this claim is that it doesn’t account for the other ways to hydrate the body. We humans fulfill a significant amount of our daily water intake through other means.  

Water Intake Through Foods  

Strawberries in a pool of water
Strawberries and watermelons contain about 92 percent water per volume

Like every hard organic item, the foods we eat contain a proportion of water. Vegetables and fruits are particularly rich in H20, with some of them (strawberries, watermelons, in particular) having more than 90 percent of their weight contributed to the presence of water.  

Even though every food item differs in its water content, all of our daily meal plans contain a considerable amount of water. As per the data furnished by The National Academies of Sciences (Health and Medicine Division), the average US citizen consumes around 20 percent of his/her daily water requirement through chewable foods.

So, the “eight glasses of water a day” doesn’t take into consideration this one-fifth daily fulfillment of H2o consumption through meals.

Water Consumption Through Beverages

The 8×8 formula is also flawed because our bodies get hydrated with various other liquids other than pure water. Even if alcoholic beverages are excluded, we get a lot of H2o in the form of juices, tea, coffee, carbonated drinks, and milk. There is no truth to the belief that coffee induces dehydration in the body. Caffeine drinks certainly have other side effects on the human body, but dehydration is not one of them.

The Right Amount of Water Intake

Girl Drinking Water
Exercise certainly requires more consumption of water

It is quite clear that water should not be consumed through definite measured values because we continue to hydrate ourselves inadvertently through foods and other drinks throughout the day.

In addition, determining daily water consumption based upon our particular metabolism is another factor. In general, water needs of the body can be altered due to these factors:

  • Weather: Our body dehydrates profusely in hot and humid weather so we have to increase water intake in this type of environment.
  • Physical Activity: The intake of water varies with every individual depending on the levels of their physical activity.
  • Health Condition: Your health also dictates the amount of water you need to consume. There are some medical conditions (fevers, diarrhea, kidney stones, bladder infections, dry mouth, etc.) which require much more water intake.

Apart from these factors, age, weight, and lifestyle also differentiate the need for water. Don’t look elsewhere for the ideal recommendation of your water needs. Your own body can guide you better in this regard instead of some arbitrary suggestion, but to get a real determination of how much water your bodies needs, speak to your medical professional and for those who have health conditions, speaking to a qualified medical professional should be a requirement.

In a healthy individual, the body naturally starts to feel thirsty as its hydration levels drop. So drink whenever you feel thirsty. Furthermore, the color of your urine can also tell you about your water needs. Urine of darker yellow color indicates that you are dehydrated.

Sweating is another sign to hydrate yourself, even if you are not feeling thirsty. The crux of this discussion is not to exhaust yourself in counting the number of glasses of water you are imbibing every day. Follow your body and drink whenever you feel like it. You would be successful in hydrating your body.

In conclusion, even with the additional sources of water contained in foods, the 8×8 recommendation is still a good reference for the average adult, but consulting with a medical professional on the amount of water needed for your specific body requirement is always the best course of action to take!

Note: The advice contained within this article is suggestive and is for informational purposes only. The information contained in this article should not be followed without the prior consultation of a medical professional!

Genomics and the Future of Health Care

Medical Technology
Photo by photosearcher –

Genomics is an emerging field of genetics that deals with analysis and sequencing of the individual’s’ genome. A genome contains the entire genetic coding in the form of DNA. Professionals in genomics perform genetic mapping to find out the complete DNA sequences and better understand the diseases.

The genomic information can help in providing improved clinical care. Better understanding of the disease through genetic mapping can also lead to improved health outcomes and therapeutic decision making capabilities.  

While genomics is a relatively new field to the public, innovations in the field had started to make waves  over two decades ago when scientists developed and improved genetic sequencing techniques. The human genome project was first started in 1990 with the aim of mapping all the genes (about 25,000) in a human genome.

Genomics: Today and Beyond

Today, the field of genomics has advanced to a great degree. Complete genomes of a number of deadly diseases including cancer have been sequenced. The genomic data can help in finding improved treatment of the different diseases including malignant tumor, lung cancer and influenza.

Access to Personalized Genomics

Today, anyone that wants to gain better understanding to one’s health can gain access to the personal genomic data. The cost of personalized genomics is affordable that is likely to fall in the future due to development of more advanced sequencing technologies such as the Whole genome sequencing (WGS).  

Recently, a company named Veritas has launched the My Genome project that allows individuals to sequence the entire genome for just $999. Access to the personal genome can pave way for more improved personalized health care. It will help in the treatment of diseases that are not treated using conventional drugs.

Advanced Genomic AI Algorithms

Data provided by genomics is nothing unless they are used for deep learning of the diseases. A number of new companies are pushing the boundaries with AI genomic technologies such as iCarbon X and Deep Genomics. These programs make use of complex AI coding for better knowledge of the human genetic sequence. While it may take some time for this type of analysis to become mainstream in clinical research, the fusion of AI and genomics provide great opportunities for breakthrough medical advancements.

Cloud Based Genome Sequencing Service

Advancements are also being made in cloud based genome sequencing technology that can help research firms located in different parts of the world collaborate in bioinformatic genomics. Some of the companies that are developing cloud genomic application based on software-as-a-service (SaaS) platform include Intel, Cloudera, Google, Amazon, Microsoft, and IBM.  

Using the knowledge of a person’s genome to diagnose and treat health problems is a revolutionary medical practice that is making waves in the field. The breakthroughs in the field will continue to open up a large number of opportunities for treatment of untreatable diseases.  A tidal wave of genomic testing and sequencing information will continue to both answer questions about medical conditions, and raise new ones.