Human genetic disorders, Leading cause of deaths from an awareness perspective
Frequent cousin marriages is the leading cause of genetic diseases especially in Pakistan.
Genetic diseases are leading cause of deaths worldwide. Especially in Pakistani population of least investigated among the other populations around the world. Recent studies shows that Asian population is at high risk of genetic disorders spreading in population as a result of mutations in recent generations.
A mutation is a change that occurs in our DNA sequence, either due to mistakes when the DNA is copied or as the result of environmental factors such as UV light and cigarette smoke.
Especially Pakistani population which is among the least investigated populations. And frequent consanguineous marriages is one of the leading cause of these genetic diseases. Consanguineous marriages are leading cause of genetic disease because of very less generation gaps between these marriages. Because of which mutations occurs in case of such first cousin marriages is causing genetic disorders which are increasing on each day passing. In Pakistan, the percentage of consanguineous marriages (first-cousin marriages) is 62.70%, which is highest among countries of ‘consanguinity belt’. Whereas the percentage is 40% in Middle Eastern countries.
Cancer, Thalassemia, Hemophilia and other genetic disorders are one of the leading diseases in Pakistan. And treatment and causes of most of such diseases are still unknown due to lack of research focus and required facilities.
Recent developments in genetic technology had made the research more easy and approachable to finding out the causes of such diseases. New techniques are being developed, gene editing technologies, gene therapies and molecular or precision medicine changing the way of treating such type of diseases.
So now the question is What is Human genetic disorders or genetic diseases? Person with no biological knowledge may ask it?
A genetic disorder or a genetic disease is a condition which is caused by the error in someone’s DNA. And these errors in a DNA can be of different type, either single base mutation, single gene or multiple gene or it can involve the addition or subtraction of entire chromosome causing the genetic disease. Genetic disorders can be caused by single or multiple errors in an individual’s genome. Which are categorized as Single gene disorders, Chromosomal disorders or complex disorders.
Single-gene disorders are a type of genetic disorders in which only one or specific gene is mutated. It is sometimes also called as “Mendelian genetic disorders”. Currently there are about 4000 genetic disorders according to the scientists which are caused by the mutation in one gene. And some of these genetic diseases can be transferred from parents to the offspring.
Some single gene disorders include
Cystic fibrosis
Sickle cell anemia
Fragile X syndrome
Muscular dystrophy
Familial hypercholesterolemia (FH)
Above are the some of the single gene disorders that affects at least 1 in 500 people around the globe.
Chromosomal disorders are another type of genetic disorders which are caused due to an error at chromosomal level. Due to addition or subtraction of entire gene from the chromosome or because of structural changes in the chromosomes. Most of the chromosomal disorders occur at conception level when egg and sperm conceived (on child birth) which is why these kinds of abnormalities occur at every cell level. And it can be transferred to the next generations.
A chromosome is a DNA molecule with part or all of the genetic material of an organism.
Complex disorders or multi-factorial inheritance disorders are also another type of human genetic disorders which are caused due to small inherited variations in genes and often triggered together with environmental factors causing different type of diseases. i.e. Heart disease, diabetes, and most cancers are examples of such disorders.
How to prevent genetic diseases/disorders?
Genetic disorders are leading, causes and treatment of most of which is still unknown. Researchers and medical professionals are continuously doing research to find out the causes and treatment methods for such diseases. These diseases are caused by the mutations in the DNA of a human which is irreversible by traditional medical procedures and medicines. Which is also the reason such diseases are difficult to cure and patients having such diseases end up with their lives. We can prevent or decrease the trend of such diseases by decreasing with in family marriages trend, genetic testing before marriages and precautionary measures which can help in reduction of increasing trend of genetic diseases.
Recent developments in Pakistan
Currently there’s no research or investigation in Pakistani population to identify and clinical investigation to develop special medical procedures and medicines to cure and treatment of genetic diseases i.e. Cancer, Thalassaemia etc. But recently some research has started to properly work and finding out the causes of such diseases which will eventually help to build clinical methods and molecular or precision medicine. Currently, precision medicine lab in affiliation with the National center of big data and cloud computing has started project to test Pakistani population and to develop precision medicine for cancers. One more project is also going to be started soon “National project of Human genetic disorders” in which at least 1000 families will be identified and tested for such diseases in Pakistani population to identification of possible root causes of such diseases and eventually develop methods to cure these diseases.
Anyone can contact me for genetic testing which will help us to develop clinical methods and medicines for families with genetic disorders, if any family has such diseases (3 or more affected family members) please reach me at “iam.hamzaabdullah@gmail.com”.
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