CEA301 Human Genetics

1.This video will discuss about the ethical issues like safeguarding of privacy, accessing of sensitive and potential risk data by private organisation like insurance company and monopoly of academic data by patenting (Pbs.org 2001).

2.Human genome is a sequence set of nucleic acid and comprises of 3 billion base pairs. They are adenine (A), thymine (T), guanine (G) and cytosine (C). Amongst them, nucleic acid adenine (A) always pairs with thymine (T) and guanine (G) always pairs with cytosine (C). Human genome is mostly identical to one person to another. A human baby is 99.9% similar to every other human baby. In nineteen nineties, identification methods of human genome were extremely arduous, time consuming and error prone. For one example, 10 years of research were carried out to identify the gene which is responsible for cystic fibrosis (CF). A further 10 more years were required to recognize the gene which is responsible for Huntington’s disease (PBS Nova Documentary 2017).

3.Tay-Sachs disease is a genetic condition and it happens because of a single base pair error in human genome. Base pairs are responsible for producing protein. In Tay-Sachs disease, the error in single base pair stops producing the protein which is responsible for dissolving fat in human brain. As a result, fat does not dissolve in the brain and it crushes the brain tissues which stops physical development of child with Tay-Sachs disease. Beta-hexosaminidase (HexA) is the missing enzyme which is responsible for the disease. Anyone can be a carrier of Tay-Sachs disease. When both of the parents are carrier, then the risk of child having Tay-Sachs disease is 25 percent. Some people like Ashkenazi Jews have higher chance compared to common population (Ntsad.org 2018). Unfortunately, Tay-Sachs has no cure till now. However, there are many therapeutic strategies which include stem cell therapy, gene therapy, substrate reduction therapy and bone marrow transplant (Ntsad.org 2018).

4.There has been clear contrast between the approach of Celera Genomics and Government. At first, government estimated the whole project would require 15 years of time. Then after few years Celera announced that they will finish the whole project in 2 years. This announcement put government funded researcher in awkward position and were forced to ramp up their approach and brought forward the estimated deadline (PBS Nova Documentary 2017).

From my perspective, government should set taxpayer money derived research available for free of charge even to the competition. I think this kind of investment is worthwhile. As the researcher correctly argued, this building of roadmap will help human kind tremendously. Scientist all over the world can use this data to make new discovery, create new medicine, find out the cause of a disease, and might find a cure.

5.Origin of life started with a single organism and every species is interrelated with each other. DNA evidence confirms this theory. Human beings are very much similar to banana and worms. Human beings have 50% similarity with banana. Every human being on this planet has 99.9% similarity with every other human being (PBS Nova Documentary 2017).

To me it is very interesting that we are very much often judged by our appearance and the basis of racism is appearance. Under the appearance, we are all very much similar and will be virtually indistinguishable based on our genetic information. The difference is 1 base pair out of every thousand base pair and a single base pair change can alter a person’s appearance totally.

6.The gene which is responsible for cystic fibrosis (CF) was discovered in 1989. However, no cure for CF has been invented yet. Scientists are yet to find a cure for CF using gene therapy. But they can use protein therapy to cure CF. Particular protein dysfunction are the cause of CF and if scientists can replace the protein instead of gene, they will also be cure the CF. Gene sequence is responsible for creation of a particular protein and thus human genome project will help scientists to determine better treatments for CF (PBS Nova Documentary 2017).

7.Iceland has a very small population of only 280,000 and all of them are direct descendents of original Viking settler. This makes them like a broad, loosely knitted family. This is why Iceland is a good place to explore human genome data.  The company named deCODE genetics was established in Iceland to investigate human genome data (PBS Nova Documentary 2017).

DNA databases have their benefits. Using these databases, early detection of various diseases is possible and to take early actions can be taken for preventable diseases. It will also be able to determine reason of different gene related diseases. It also raises few ethical concerns like how private organisations will use sensitive and potential implicating data regarding a family. Every sensitive, identifying and implicating data should be safeguarded and only to be used in anonymous format if necessary.

8.The risk factor of a female residing in USA getting breast cancer in the duration of her lifespan is about 10 percent. If the woman inherited a mutated BRCA1 and BRCA2 gene, the risk factor of getting breast cancer in her lifetime goes up to 80 percent (PBS Nova Documentary 2017).

If I were in the shoes of Alana, just like her, I would not wish to be tested for breast cancer which still has no cure. After discussing the topic with my friends and other students, I found that some of them want to be tested whereas others do not. Those who want to be tested, wants to reduce the chance of getting cancer and believes prevention is better than cure. On the other hand, who does not want to be tested, believes it will only increase the mental anxiety for an incurable disease.

9.Assisted reproductive technologies (ART) are currently being done on plants and animals. Few examples of these are tobacco plant with firefly genes and glowing mice (PBS Nova Documentary 2017).

In my opinion, to make sure that baby has no disease is acceptable but other than that any modification should not be applied. Nature, evolution and chance have created a superior species like human and in my opinion, we should not meddle with that except to remove diseases.

10.The race between the Government and Celera has ended in a tie and both of them shared credit for completing the human genome project.

Human DNA has 30,000 genes in its whole genome. However, they are not uniformly and equally distributed amongst the chromosomes. Distributions of genes are uneven across the chromosome like population habitat across a country. Human genome has 3 billion base pairs and only 1 or 1.5 percent of its genes that encode proteins. Rest of its are selfish DNA which have been replicating and copying themselves in human genome since the start of the evolution (PBS Nova Documentary 2017).

References

Ntsad.org. 2018. NTSAD - Home. [online] Available at: https://www.ntsad.org/ [Accessed 24 Oct. 2018].

Ntsad.org. 2018. NTSAD - Tay Sachs Research. [online] Available at: https://www.ntsad.org/index.php/research-for-families/research-by-disease/tay-sachs [Accessed 24 Oct. 2018].

PBS Nova Documentary 2017. PBS Nova Documentary Collection: Cracking the Code Of Life. [video] Available at: https://www.youtube.com/watch?v=ObGUes6c1eU [Accessed 24 Oct. 2018].

Pbs.org. 2001. NOVA Online | Cracking the Code of Life | Watch the Program/Advanced Options. [online] Available at: https://www.pbs.org/wgbh/nova/genome/program_adv.html [Accessed 24 Oct. 2018].