A Whole Lot of Genes and Discoveries

Gene Therapy: Once Again Saving Lives

Imagine getting a cut and fearing that you could die from bleeding out. That's what people with hemophilia, a genetic disorder that prevents a person from forming blood clots and in turn causes extreme bleeding with even the smallest cuts, worry about every day. Hemophilia is a rare and life-threatening disease. It is caused when someone does not have something called a coagulation factor, (the proteins in the blood that control bleeding) usually factor VIII type. A recent study set out to look at the effects that gene therapy would have on those with hemophilia.

Here’s how the gene therapy, known as valoctocogene roxaparvovec, works: a patient receives a one-time infusion that produces factor VIII. The genetic code is delivered by something called an adeno-associated virus (a virus that does not have a lipid (fat) covering and can be altered to deliver genetic code without causing disease). The virus then interacts with liver cells to create the protein needed for blood clots.

The encouraging results were as follows: the majority of patients who received the injection experienced an increase in their factor VIII level, allowing them to form blood clots. Still, a small portion of participants did not benefit from the treatment. Additionally, many individuals suffered from side effects in their liver.

Long term usage: as of now, it is unknown how long the treatment will last, but the effects proved to decrease after a year. The treatment can also only be used once. Although this gene therapy does not work for everyone, this could ultimately save many lives. Further advances should be on the horizon.

A. Cunningham. A gene therapy for hemophilia boosts levels of a crucial clotting protein. Science News. March 16, 2022. https://www.sciencenews.org/article/gene-therapy-hemophilia-clotting-blood-clot-protein.

An Incredible Brain Implant

Over the years countless methods have been tried to communicate with those in paralyzed/unresponsive states, including pen and paper, twitches and blinks, and, more recently, computer interface technology. In 2017, a man who had been diagnosed with ALS knew he would ultimately become completely paralyized and prevented from even moving his eyes. So, before he progressed to this point, he began to work with Dr. Ujwal Chaudhary and other doctors and scientists.

Three years later, Ujwal Chaudhary accomplished something no one else had been able to: he watched his computer, connected to the paralyzed man who then imagined his eyes moving to select letters from a list projected by the computer. This man selected a letter every minute or so, and formed sentences for the first time in years.

In order to achieve this remarkable feat, Dr. Birbaumer, the leader of the study, had two electrodes implanted in the section of the patient’s brain that is in charge of movement. The doctors played the patient a high or low note, signifying yes or no. They then played him a second note with the goal of having him match the second to the first. Through the process of the electrodes first detecting the tone, to him imagining his eyes moving, (which would heighten or lower his brain activity) he succeeded in matching the tones. This process gave him the right feedback to further enable him to change the pitch to match yes or no.

The team of doctors looked to extend the man’s success to words. Letters were grouped into five colors. The man would choose the color that his letter was a part of, then choose the letter; all of this was read out by a computer. The man continued these steps to form words and sentences. He was even able to tell the doctors what he wanted to eat.

This is an incredible study that will continue to benefit research and eventually help others who are paralyzed.

J. Moens. Brain Implant Allows Fully Paralayzed Patients to Communicate. The New York Times. March 22, 2022. https://www.nytimes.com/2022/03/22/science/brain-computer-als-communication.html?referringSource=articleShare.

Discovery of the Entire Human Genome

For over 20 years, scientists have been searching for the full human genome, (the genetic code that makes us who we are, more specifically, the total set of nucleic acid sequences in a human) and, just recently, they finally found the missing 8%! The discovery led by scientists at UC Santa Cruz and the National Institutes of Health (NIH) confirms that the human genome is in fact composed of 3.055 billion base pairs, (the two chemical bases that when bonded form a “rung” of the DNA ladder) the bases are known as adenine, cytosine, guanine, and thymine, and these form 19,969 working genes.

The group of scientists was able to add 200 million base pairs along with 115 active genes to the draft of the genome which had previously been undiscovered. The newfound sequence supplies the very first full account of essential parts of the human chromosomes (a structure inside the cell nucleus made of proteins and DNA). The full human genome and increased understanding of genes will help scientists for years to come with understanding genetics behind diseases and even provides further insight into human evolution!

E. Allday. In research breakthrough, California scientists help decode entire human genome. San Francisco Chronicle. March 31, 2022. https://www.sfchronicle.com/california/article/Scientists-complete-sequencing-of-human-genome-in-17048849.php