Friday, September 25, 2020

New Genetic Cause of Epilepsy Found

 



    Researchers have discovered two new gene mutations that cause epilepsy, more specifically the Familial adult myoclonic epilepsy (FAME). The two gene mutations are STARD7 and MARCH6 and they form the FAME2 and FAME3. These mutations form from repeat mutation which are mutations that are involved with neurological diseases. This explains why it is found in epilepsy. This new discovery proves to be extremely beneficial to families who have been affected with this disease because it allows a new treatment plan that could work out better for the patient themselves. With this knowledge testing is available to see the change thats able to be done for the patient which would include a more controlled form of the disease itself. Due to this form of mutation it can be very hard to find the mutation in the DNA sequence so special tools are used such as the expanded short tandem repeat algorithm. This tool can scan an entire genome to find the mutation and other tools aren't able to pick up repeat expansions. This discovery has relieved many families and patients that have had to deal with a disease that no one knew it was caused by. With this information we can begin to work on the important parts of the disease and maybe even find a cure.

https://medicalxpress.com/

https://medicalxpress.com/news/2019-12-genetic-epilepsy.html



Genetics Of Migraine aura: An update

    This article is about the genetics of migraines and what types of migraines can people have. The two main migraines in this article states are migraines with aura and migraines without aura. The epidemiological studies give evidence about cohort and families are the genetic contribution is highest in migraines with aura. Candidate gene associations studies have performed at the DNA variants in genes prioritized based on presumed knowledge of migraines pathophysiology. There were a lot of studies mentioned in this article related to this update such as (GWAS) and (SNP). 

https://search-proquest-com.ezproxy.stockton.edu/biologicalscience1/docview/2409814614/744EB56D89FA47C7PQ/6?accountid=29054

https://search-proquest-com.ezproxy.stockton.edu/biologicalscience1/docview/2409814614/744EB56D89FA47C7PQ/6?accountid=29054

Thursday, September 24, 2020

COVID-19 affecting patients differently

                                          




In the article, “Genetic or Immune Defects May Impair Abilityto Fight Covid-19”, it demonstrates the severely ill patients from Covid-19 were more likely to carry a mutation that affects the making of the type 1 interferon. This type 1 interferon is a frontline immune molecule and helps fight off illnesses as soon as detected. Another study mentioned, showed patients carrying antibodies to their own interferon. This was not found in the asymptomatic people. This would mean they destroy their own interferon. I believe there is a lot to still understand about COVID-19 and finding out this mutation did help understand why COVID-19 affects people differently. Finding out one reason why COVID-19 affects people different is a step in the right direction. This article provided information that I believe will help provide a stepping stone to understand the different affects of COVID-19 on different people. 


Additional link: https://www.covidhge.com/about

Wednesday, September 23, 2020

*Picture of cooked Brussel sprouts Me: yum Everyone: ew



Are you a super taster or a sub taster? To test this theory add blue food coloring to your tongue. The dye does not stick to taste buds. If the dye becomes bluer and bluer you are a sub taster, if your tongue doesn't get very blue you are a super taster. What does this mean? Super tasters have more of a sensitivity to different food flavors such as coffee which is why they add more cream and sugar. Sub tasters on the other hand don't have as many receptors to detect the different food molecules so they go for spicy over mild. The capacity at which your taste buds can detect the taste and send a message to your brain are dictated by the structure of the receptors and how your brain perceives that message. We have 30 different genes that allow us to have a range of what we individually consider bitter based on what our brains senses and signals back to the tastebud. 

Gene Editing: Pros, Cons, Side Effects (In Humans)

 

       First of all, what is gene editing? In 2018, a request was approved to modify the genetic sequence of human embryos. The gene editing technique was give the name CRISPR-Cas9. This means that it can modify and "fix' disease causing genes in the embryo, and therefore have it be gone for future descendants as well. This was a huge breakthrough, but it is very controversial. Let's begin with the pros of gene editing. CRISPR can locate and kill cancer cells. It is also very helpful in drug research, and researchers are using it to speed up the drug discovery process. It can also stop diseases from getting passed down to the offspring. Overall, with gene editing, life can be expanded. It is also used in crops and food production, but that would be a whole other blog post. Now let's get into the cons. Many people see gene editing as unethical. It gives humans almost too much power. People have even called it "playing God". The claim is that diseases are natural, and natural is better. The earth is also already overpopulated, so it would create even more social issues if everyone was kept alive longer. Eventually, there just would not be enough food and resources. Also, it is still not completely safe to do. Gene editing at the cellular level could lead to unexpected results and even miscarriage and stillbirth. And lastly, genetically engineering a species would lead to no diversity, which is a major key to evolution on earth. I think that with proper restrictions, gene editing could be a beautiful gift to humans, as long as it is not taken advantage of. 

Tuesday, September 22, 2020

Field Trials of Genetically Modified Mosquitoes and Public Health Ethics

Recently, public health officials released genetically modified(GM) mosquitos in parts of Florida, alarming some people. When looking into it more, I found that they were GM males, which don't bite and are unable to produce viable offspring. By doing this, public health officials hope to reduce the amount of mosquito offspring that are able to pass on diseases that are potentially dangerous to humans. Despite the benefits, there are also ethical issues some are concerned with. Certain people fee individuals and communities should have the opportunity to give consent in regard to being exposed to these mosquitos. There are also issues with regard to potential public health and environmental risks that might arise due to this introduction. I personally find no issue with this since the males wouldn't pose a danger to anyone's health and only have the ability to reduce the population of mosquitos.

Friday, September 18, 2020

CRISPR Gene Editing in Patients with a Congenital Vision Disease

 



Several years ago, scientists learned how to splice the human genome, however, it is still questionable about whether this is an ethical issue when dealing with humans genes. Editas Medicine and Allergan recently disclosed that they would be beginning to perform a type of gene editing in patients with a congenital vision disorder, however, unlike normal human genome splicing, the effects of their editing would not be passed down to the next generation. They will be using CRISPR in the eye of their patients where it will fix a single gene mutation in the CEP290 gene. The mutation of the CEP290 gene prevents photoreceptors from sensing light, which ultimately causes low vision or blindness. Although some may disagree, I believe that this trial of gene editing in humans is ethical, as CRISPR is only capable of editing the specific CEP290 gene. This genetic disorder is currently untreatable, and the use of CRISPR to cut and remove the malfunctioning CEP290 gene could help increase the vision of those with this congenital vision disease. 







Thursday, September 17, 2020

The Increasing Impact of Genetic Studies on Homo Sapien Evolution




In Katarina Zimmer's article from TheScientist she mentions the role genetics has played so far in the study of human evolution. In the past, excavating and studying fossils was the primary method for this. However genetic studies have become a more popular technique, already making a big impact. An example of this is the multi-regional model. This model stated that homo sapiens left Africa and were evolving separately in different regions of the world. This was proven to be incorrect when DNA in the maternally inherited mitochondria was traced all the way back between 100,000 to 200,000 years ago to a single woman ("Mitochondrial Eve")living in southern Africa. This discovery helped prove the  more widely accepted model today, the replacement model or the "Out of Africa" model. The new model stated that all homo sapiens evolved in Africa then migrated and settled in many regions around the globe. This article showed me how big of a role genetics has played, with the replacement model being just one of the many cases where genetics has played a big role. Although this isn't the only method we should use, I think its role will continue to grow when trying to solve this mystery.