New Genetic Variants Linked to Autism: Unlocking Insights into Developmental Delays

 Recent research has identified new genetic variants associated with autism spectrum disorder (ASD) and developmental delays, offering deeper insights into the genetic factors contributing to these conditions.

A collaborative international study focused on the GSK3B gene, analyzing the genotypes and phenotypes of 15 individuals with variants in this gene. Common characteristics among these individuals included developmental delays, autism, sleep disturbances, and other behavioral challenges.

Further investigation using single-cell transcriptomic data revealed that GSK3B is enriched in excitatory neurons during brain development. Inhibiting this gene in animal models led to behavioral changes similar to those observed in humans with ASD, underscoring its potential role in the disorder's pathology.

This discovery adds to the growing list of genetic variants linked to autism, enhancing the potential for more accurate genetic diagnoses. Sarah Jurgensmeyer, MS, a lecturer in the Department of Pediatrics at Northwestern University and co-author of the study, emphasized the importance of such findings in connecting families with appropriate resources and support.

The study exemplifies the power of collaborative platforms like GeneMatcher, which connect scientists and clinicians to advance understanding of rare genetic variants. By sharing data and insights, researchers can accelerate the identification of genetic factors involved in complex conditions like autism.

In summary, the identification of GSK3B variants as contributors to autism and developmental delays represents a significant step forward in unraveling the genetic underpinnings of these conditions. This progress holds promise for improved diagnostic precision and the development of targeted interventions in the future.

References:

Dimmer, O. (2024, December 4). Newly discovered genetic variants linked to autism. Medical Xpress. https://medicalxpress.com/news/2024-12-newly-genetic-variants-linked-autism.html

Genes Identified That may be Linked to Dyslexia

 For millions of Americans, dyslexia has been a major threat to everyday life. Dyslexia is a condition in which reading and spelling is difficult. But according to an article, researchers believe that they have identified the genes that are responsible for this condition. Scientists from the Max Planck Institute for Psycholinguistics, the QIMR Berghofer Medical Research Institute in Australia, the U.S. company 23andMe Inc, and the University of Edinburgh had conducted one of the largest genetic studies recorded on dyslexia. Scientists had records from 50,000 adults who suffer from the condition and about 1 million adults that don’t have the disease, and found that 42 of the genes were significant in regards to language delay and others for critical thinking skills, both of which play a major role in harming an individual’s academic performance. 

After reading this article, I believe that more research needs to be done in regards to what genes are exactly responsible for dyslexia. I believe this because the original article that was found only stated that they found the genes responsible and did not go into detail about how they conducted their research. This was interesting to learn about so I'm hoping more research can be done so individuals can learn more about dyslexia and how it comes about whether its a genetic factor or happens in while the individual develops.

Convert blood types into type O

                        During the 256th National Meeting & Exposition of the American Chemical Society, researchers from the University of British Columbia describe they may have found a way to convert blood group into blood type O.  Researchers believe using a bacterial enzyme will turn any blood into type O.  The bacteria enzyme is from the human gut. To convert any blood types AB, A, B, into O, the markers or antigens from these types of blood will need to remove. By removing these antigens, all blood will be compatible. This is just a theory right now. Currently, researchers are continuing to work on this new idea. So far, they had gotten outstanding results from samples of human feces.

             This idea is very calm and astonishment. Right now, there are four basic types of blood groups. There are AB, A, B, and O. Each of these blood groups has different antigens. Blood A has A antigens and can only get it A blood, blood AB has A antigens and B antigens and can receive any type. Blood B has B antigens and can only get B blood.

On the other hand, blood O has no antigens but can give to any of the blood groups. Also, blood O can only receive from O. If in the future, this succeeds, everyone will no longer need to wait for blood donations. All blood will be compatible with each other.

https://bigthink.com/stephen-johnson/scientists-use-gut-bacteria-to-convert-any-blood-into-type-o
https://techthelead.com/scientists-discovered-how-to-convert-type-a-blood-into-type-o/

The Future of Organ Donation: Genetically Engineered Pigs

Should you ever find yourself in need of a replacement for a vital organ, your ability to receive one will depend on some factors that have nothing to do with how badly you need that heart or lung or pancreas. Your age and blood type will figure, as will your ability to afford the immunosuppressant drugs and lifelong care needed to keep the organ functioning. If your lucky day ever comes, it will come only because someone else had an extremely unlucky day: A healthy and immune-compatible donor will have died in a way that leaves a healthy target organ unscathed. But thanks to scientists that are doing their best to find an option rather than wating for a person to die. There is a probability of using other animals to help us. There is one abundant and quick-breeding species that in crucial respects bears an almost uncomfortable resemblance to humans: Sus scrofa domesticus, the common pig. A 150-pound pig is uncannily humanlike in organ size and function. But this is not that easy. In fact, humans are not molecularly compatible with pigs, their organs will never work in a human body. So, scientists are working to comprehend the mechanisms that guide the human immune system to distinguish friend from foe, and to persuade it to regard the pig as friend.

Xenotransplantation has always been around the corner, pigs have been quietly insinuating their way into our bodies for some time now. Their pancreas glands have been used to make some types of insulin, and their intestinal tissue has been used to make the blood thinner heparin. Cardiac surgeons reach for pig heart valves to replace leaky and hardened human plumbing, and eye surgeons have affixed pig corneas to damaged human eyes. But those are not the only organs that people are waiting for, unfortunately there are many organs that are not compatible with us.

In 2013, a 27-year-old Harvard graduate student named Luhan Yang co-authored a study that demonstrated how the genome-editing tool known as Crispr-Cas9 could slice through mammalian genes and edit sequences to remove some characteristics and alter others. Yang’s team developed a technique to edit genetically normal cells from a living pig, then embed the DNA-containing nuclei of these modified cells into egg cells taken from the ovaries of a normal pig. A few months later, the team witnessed the birth of the first pig born without the endogenous viruses. 

With the PERV gene knocked out of their pigs, Yang and her team are experimenting with knocking in dozens of human genes to make the organs more humanlike: Some would buffer the pig tissue from assault by the human immune system; others would tweak its coagulation system to diminish the risk of clotting. In my opinion this could safe many lives because there is a chance that your lucky day to receive an organ donor will never come, that you’ll become one of the 20 Americans who die each day waiting for an organ. The ability of scientist to manipulate many genes opens new possibilities and innovation. And some day the organs of those pigs could be in someone that we know or even us.

Sources :
https://www.nytimes.com/interactive/2018/11/14/magazine/tech-design-xenotransplantation.html ttps://www.google.com/search? Pig Organs
https://www.google.com/searchq=pig+transplant&source=lnms&tbm=isch&sa=X&ved=0ahUKEwiZno3BgefeAhWFl-AKHfhZDiQQ_AUIDigB&biw=1280&bih=610#imgrc=IsDo59d5_Ivg1M:

An Apple a Day Gets Approved Any Day

The government has approved the commercial planting of genetically engineered apples that don't brown when sliced or bruised. The developer Okanagan Specialty Fruits, says the non-browning feature will make apples more appealing to consumers and food service companies. However executives in the apple industry worry the biotech apples will face controversy from some consumers along with them loosing exports in countries that do not like genetically modified foods. The Department of Agriculture has considered these issues, however under the law, approval is based on whether a genetically modified crop poses a treat to other plants. The apples do not pose any risk. The apples are genetically engineered to suppress the production of an enzyme that causes browning when the cells in the apple are injured, for example by slicing. But over time they will still rot a turn brown. 

In my opinion, although the browning of apples is not appealing to me in anyway, I'm not a fan of it being genetically altered to prevent it. There are other ways to prevent the browning for a bit more time, for instance, Lemon juice, which is natural. That's just my opinion though, I'm not going to be the guinea pig for an apple. 

Mighty Mice: Tweaking a Gene to Make Muscles Twice as Strong

A collaboration between researchers at the Salk Institute for Biological Studies, and two Swiss institutions, Ecole Polytechnique Federale de Lausanne (EPFL) and the University of Lausanne, has revealed a fascinating and ground-breaking new discovery: the tiny inhibitor responsible for determining muscle strength. By manipulating the genome regulator NCor1 and suppressing the newly-discovered inhibitor, the scientists have created a strain of superhero-like mice that are capable of running twice as fast, twice as long, and with muscles that are twice as strong. Plus, a higher cold tolerance was exhibited. So far, no harmful side effects have been detected, and the researchers are well on their way to confirming the effects of this new break through in humans.