New findings in the development of Childhood Leukemia

    A recent article by the Mount Sinai Health System shows new promising research regarding childhood leukemia. A research team at theIcahnm School of Medicine used gene editing techniques on human blood cells at different stages of development in a child's life. They introduced a cancer-inducing gene and analyzed the stem cells collected before birth, after birthduringat childhood, and during adulthood. By doing this, the team was able to analyze an identical genetic mutation, but at different developmental stages in humans. Their research found that the time the mutation occurs does affect the aggression and treatment of the cancer that develops. In fetal stem cells, the cells rapidly transformed into leukemia, showing the most aggressive form in the entire study. In human cells that were in adulthood, the cells were less likely to transform into leukemia, making the process much harder. This study makes 2 very important findings for the field of cancer studies and genetics.  Firstly, the time the mutation occurs in development matters greatly for the severity and treatment of the cancer. Secondly, it debunks the idea that the same mutation will create an identical cancer. Another study on childhood leukemia analyzed newborn blood samples between children who later developed leukemia and those who did not. By studying the different methylation patterns, they found that not just the DNA sequence mutations affect children who later develop leukemia. This study supports the idea that some childhood leukemia ensues in the prenatal fetus. 

    
       This research is important to society as leukemia is the most common cancer found in children. The implications of this study must be applied ot the future of cancer studies involving childhood leukemia. This finding challenges previous ideas, as it could have been thought that all identical DNA mutations create the same effect on the large idiucal. With the findings of the Ichan School of Medicine, it is now understood that the developmental stage this mutation occurs is just as important as the mutation itself. 

Mutations Occurring In Human Genome Much Faster Than Previously Thought

                   Mutations are the basis over evolution providing genetic diversity to allow for the survival of the most fit. Modern technology allows for the comparison of parental genomes to their children. With this comparison mutation rates can be calculated and used to understand human biology. “The researchers estimate that every human has nearly 200 new genetic changes that are different from either parent” (University of Utah Health). Further investigation shows that parts of the human genome change much faster than known. "To get a complete, high-resolution picture of genetic variation over time, the team sequenced each person's DNA using multiple different technologies"(ScienceDaily). Parts of the human genome previously thought to be unchanging are changing at rapid rates. 

                   This doesn’t just affect research but medical care as well. Genetic counselors now must adjust their probabilities considering this randomness. If a child is found to be afflicted was it inherited, or a mutation and if it was a mutation is it now inheritable to their offspring? With this research and sequencing results made publicly available for further exploration a lot more genetic findings can now be discovered. 

Image from ScienceDaily

New Gene Editing Strategies used to Treat Rare Genetic Diseases

 A recent article by the New York Times, entitled “New Gene-Editing Strategy Could Help Development of Treatments for Rare Diseases”, discusses a new approach to genetic editing. This new technology is led by Dr. David Liu, a biologist at the Broad Institute and Harvard. Currently, the process of gene editing offers hope for treating certain genetic diseases; however, it is both demanding of resources and time and only applies to a small number of patients. With new research methods, Dr. Liu is hopeful for a more efficient method of gene editing. Instead of using personalized gene editing for each disorder, Dr. Liu's research provides a pathway for a more standard way to correct genetic diseases. This technique could treat patients regardless of what genetic mutation they suffer from. 7,000 total rare genetic diseases affect more than 400 million individuals worldwide. This study is focused on “nonsense mutations” that cause the production of premature stop codons, causing the protein to be truncated. Dr. Liu's technology inserts a molecule that replaces the stop codon and continues manufacturing a full-length protein, instead of targeting the specific mutation itself. The future for this technology is long and must be well tested before it can be seen in human patients. However, there is great promise for the future of gene editing and future patients. Before this technology, gene editing was used to alter specific mutations in individual patients. A case of gene editing in a baby at the Children's Hospital of Philadelphia shows the success of this genetic editing on a baby born with a rare genetic mutation that usually kills 50% of infants born with this mutation. An article describing this case shows this infant as one of the first to be cured successfully by genetic engineering. This success provides hope for the future of genetic editing and the potential future outcomes that may stem from this success. 

This new technology enhances the process of genetic editing. This gives great hope for the future of science and medicine as genetic editing for specific mutations has already been proven successful, highlighted in the case of the infant whose life was saved from such a process. Hopefully, in the future, this efficient and cost-effective technology can serve the 400 million people suffering from rare genetic diseases around the world.

Genetic Identification allows for Possible Treatment for Pediatric Gene Malfunction

 

Cassidy DeMasi

November 22^nd, 2025

Dr. Barbato

Genetic Identification allows for Possible Treatment for Pediatric Gene Malfunction 

Noonan syndrome is a genetic disorder that causes several odd characteristics within the human body. The syndrome is typically characterized by wide-set eyes, drooping eyelids, low-set and backward-rotated ears, a broad forehead, a short neck, and a short stature. When facing a patient with Noonan’s, lentigines can also be observed on their skin, especially in the neck region. The hidden issue with Noonan’s Syndrome is heart defects caused by thickening and bleeding problems. Noonan’s specifically is a "heterozygous pathogenic variant that occurs in some different genes. Newborns, specifically those with thickening of the heart muscle, often do not survive past 6 weeks. Their heart is not strong enough to counteract the effects that thickening causes.

Researchers have recently discovered, using genetics, that a pre-existing drug could potentially reduce the effects of a genetic mutation. Researchers discovered that "when mutated in NSML, SHP2 binds to another protein and recruits another enzyme called c-Src, a tyrosine kinase" (Mahima Samraik, MS 2025).  This malfunction causes proteins that turn a gene on or off to be unreasonably higher, which affects normal heart development. However, knowing this, researchers made the correlation that the BMP10 levels could potentially be reduced by a drug used to help treat leukemia. The article states, "researchers found that very low doses of dasatinib returned BMP10 levels in NSML mice to normal levels. By inhibiting c-Src, dasatinib prevented the transcription factors from becoming overly active, essentially counteracting the effect of the mutated gene implicated in NSML,"(Mahima Samraik, MS 2025). This understanding could potentially allow a genetically proven, science-backed prevention of the problem that could claim a newborn's life. The features are not the problem with Noonan's, but a Mother and Father should not have to bury their baby. 

Sources 

pathogenic variant - GeneReviews® - NCBI Bookshelf. (2025). Nih.gov. https://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/pathogenic-variant

University of Oxford. (2023, March 14). Global study shows the experience of Endometriosis is rooted in genetics | University of Oxford. Www.ox.ac.uk. https://www.ox.ac.uk/news/2023-03-14-global-study-shows-experience-endometriosis-rooted-genetics

A Genetic Finding Suggests Mutation to Make Horses More Rideable

        The modern domestication of horses can be dated back to over 4,200 years ago. A team of scientists, led by molecular archaeologist Ludovic Orlando, observed the genomes of ancient horses and compared them to ones of the domesticated horses humans are familiar with today. Whilst studying the genomes, nine specific genes stood out as selected and targeted by human breeders   

 

        One gene recorded was ZFPM1, a gene familiar to scientists as the marker for anxiety levels in mice and human well being. This was one of the first genes selected by breeders around 5,000 years ago, suggesting the original concern for domestication was keeping the horse tamer.

        Interestingly enough, around 300-800 years later, the breeders advanced their selection and the gene Gasdermin C (GSDMC) strongly started to appear. In humans, a mutation of this gene causes chronic back pain and disorders such as spinal stenosis. In horses, it is seen to be related to the body length to body height ratio. 

        Once Orlando and his team discovered horses with this gene mutation when first appearing had 20% more offspring than those without, they ran testing on mice and inactivated their GSDMC genes. This experiment found the mice's spines modified to become straighter and forelimbs to be stronger.

        Orlando concludes "people intended to put that variant more frequently into the population... when you see something like that, you know you're onto something that was a real game changer for horse biology".

        The research done by Orlando and his colleagues is impressive and presents the importance of to be able to fully understand the human selected genes of any animal, in this case horses, it must be compared to the original non-domesticated ancestor. Learning more about the genetic makeup of one of the first animals domesticated by humans can help us further learn about the scientific thought process of our ancestors. 

Sources:

https://www.sciencenews.org/article/tamed-horses-rideable-genetic-mutation 

https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=DetailsSearch&Term=56169 

                   

Increasing Anti-Microbial Resistance Poses Threat to Globe

    Articles in the NY Times "W.H.O. Warns of Sharp Increase in Drug-Resistant Infections" and "The Global Threat of Antibiotic Resistance" reports of the spread of dangerous antimicrobial-resistant infections, which have been increasing by nearly 15 percent each year. This includes infections such as UTI’s, gonorrhea, E. coli, and other pathogenic bacteria that kill millions annually.  It’s estimated that more than 39 million people will die from antimicrobial-resistant pathogens in the next 25 years. While the increase in antimicrobial resistance is inevitable, it is being accelerated by improper, or excessive use of antimicrobials. Nearly 140 countries have joined the Center for Global Development’s antimicrobial resistance surveillance system and 100 of which contributed data. 

                  This presents an incredibly difficult challenge, especially for doctors who want to treat their patients but recognize that improper use could lead to a much larger crisis. I believe it is the responsibility of the prescriber to emphasize the importance of taking an entire course of antimicrobials, even if the patient feels better before finishing. However, patients also share responsibility by ensuring they aren’t skipping their last doses because they feel better leaving the last, strongest, pathogenic bacteria to survive, mutate, and spread resistance. Perhaps there should be stronger guidelines are even laws to prescribing antibiotics, like making a patient sign a form stating they’ll take the antimicrobials for the full length of time unless otherwise stated by the doctor. Education on this subject could also slow the increase of anti-microbial resistant infections, like teaching genetic resistance in high school science classes. Either way improper use needs to stop, or common infections could become a death sentence.

Image From Spartha Medical

Are There Developmental Origins of Autism?

  A relatively recent study conducted by the National Institute of Health on ASD(autism spectrum disorder),  have led researchers to have found several factors that likely contribute to the disorder. However even with certain genetic variations being associated with ASD, researchers still have been unable to identify how these variations shape the development and function of the brain. ASD is a neurological and developmental disorder that encompasses a wide range of symptoms, including but not limited to how people interact with others, communicate, learn, and behave. Symptoms will generally appear within the first two years of life, but can be diagnosed at any age. 

    For this study, researchers investigated the human exome which includes all the exons in the human genome and DNA components that provide instructions for making proteins. While exons only make up roughly 1 to 1.5% of a person's genetic code, they are typically responsible for disease causing mutations. Therefore sequencing an individual's exome can allow researchers to identify certain genetic mutations that are responsible for a disorder/condition. In the context of this experiment, researchers sequenced those with and without ASD to compare their exomes. Data from 35, 584 people was collected, with 11,986 of those people having ASD. The results showed that there was very strong evidence that 26 genes are linked to ASD and another 76 were identified to have correlation to the disorder. Of the 102 genes, 60 had not been linked to ASD before. These findings suggest that there are many more genetic variants associated with ASD than previously thought.

Mutated DNA Fixed in Patients: A Huge Step for Gene Therapy

A recent article by Gina Kolata, published on March 10, 2025 in The New York Times, discusses an exciting breakthrough in gene therapy. Scientists have succesfully fixed a genetic mutation with a single infusion carrying a treatment that precisely targets the mutated gene. This is for the first time that a mutated gene has been returned to normal. This study led by Beam Therapeauticals, focused on alpha-1 antitrypsin deficiency (AATD), which is a genetic disorder that causes serious lung and liver damage and instead of using traditional gene therapy which involve adding or silencing genes, scientists used a special version of CRISPR to edit a single DNA letter, like "correcting a typo" in the genetic code. The patients who received highest doses started making normal levels of the missing protein, which could mean stopping the disease before it gets worse.

        This coud be a turning point in gene therapy, proving fixing faulty DNA inside the body is possible and what's more interesting is that, according to Beam's CEO, John Evans there were no serious side effects. While researchers still have to study long term effects, if further trials confirms it's safety, this could save countless lives and maybe it could pave the way for treating other genetic disorders like sickle cell anemia. The idea of editing DNA, like fixing a typo is something that holds the potential to save many people suffering from genetic disorders.

Tumor Formation in NF1 Patients

 A new Sci Tech Daily article shares recent findings about the formation of tumors in NF-1 patients. According to Johns Hopkins Medicine, NF is a genetic mutation that appears with varying symptoms including skin discoloration, bone deformities, and tumors on nerve tissues. However, a new study shows that genetic changes are probably not the only thing impacting tumor growth. The researchers’ study found that tumor-causing DNA was found in cells throughout the body, so the presence of the gene was not indicative of tumor growth. While most tumors resulting from NF1 are benign, some can grow to be cancerous, so learning about influencing factors could expand treatment options for patients. Although most tumors are noncancerous, they can impact the quality of life, especially if they form in the brain which is common for NF1 patients. Understanding all the forces that lead to tumor formation will help many patients get more tailored treatments as the disease affects 1 in 3000 people and is one of the most commonly inherited diseases so the number is likely to increase. 

I find it encouraging that this research was conducted even though the genesis of these tumors was thought to be understood already. With new discoveries, healthcare and patients’ quality of life can be expected to increase. I’ve heard the saying that every day new discoveries are happening, but this article demonstrates exactly how much better scientists can understand genetics with evolving technology. 

Links

https://scitechdaily.com/why-do-tumors-form-scientists-challenge-long-held-cancer-predisposition-beliefs/

https://www.hopkinsmedicine.org/health/conditions-and-diseases/neurofibromatosis/neurofibromatosis-type-1

Mapping of the Early Skeleton

 

Recently, the development of the early skeleton was mapped in order to create a blueprint of human skeletal development. It was found that cartilage cells grow first and act as a scaffold for bone cells to grow over. This happens across the body except for the top of the skull, called the calvarium. They discovered new types of early bone cells in the calvarium involved in bone development, and they investigated how genetic mutations linked with craniosynostosis disrupt these cells, causing them to fuse early. They also found that genetic variants associated with hip osteoarthritis took place in early bone cell development, while those variants that were associated with knee arthritis took place during cartilage formation. The effects of certain medications on bone development were also mapped.

In my opinion, mapping the development of the human skeleton before birth can be extremely useful for a wide variety of research. By studying how different genetic variants and mutations affect bone development, we can use this to better understand conditions like osteoarthritis and craniosynostosis, and we can work to develop treatments for these conditions. By having a detailed blueprint for the development of the human skeleton, we can base research on both younger and older skeletons on it. We can potentially develop methods to grow bone and cartilage tissue in dishes, providing us the opportunity to develop a multitude of new therapies.

The Lab Results Are In: Genes Might Be to Blame for Retrievers’ Obesity

Labrador retriever dogs are one of the most beloved dog breed. Labrador are known for their intelligence, gentleness and intelligence, to be great service dogs. But Labs are known also for their incredible appetite. Labs will literally put in their mouth and eat anything that they can find. It is estimate that nearly 60 % of all labradors are either overweight or obese. 

People think that this trait in Labrador’s breed is just incorrigible gluttons but turns out it’s in their genes.  Scientists at the Cambridge University in fact, have found studying 310 Labrador that many of them either miss the POMC( pro-opiomelanocortin) gene or part of it. Sequencing of the genome of obese Labrador retriever have shown a deletion of 14 bp with an allele frequency of 12%. The deletion of those bases disrupt the production of β-MSH( melanocyte-stimulating hormone) which is associated with increase in body weight, adiposity and food motivation in Labs. Moreover, the deletion was found on both heterozygous and homozygous dogs  showing that this variant in the genome is carried regardless. 

POMC gene regulates the appetite in some species and to sense how much fat the body has stored. If a dog lack this gene it doesn’t know when its full and had enough food so its just keep on eating. This mutation is also more common in Labradors selected to become assistance dogs which is consistent with their training based on food rewards. Labrador in fact for a food reward would work harder hence the higher success on training them for tasks or jobs. The POMC mutation is not a very widespread mutation the only other dog breed that showed it is the flat-coated retrievers which are cousins of the Labradors. Scientists think that the mutation could be associated to St. John’s water dog which the Labrador descend from. The St. John’s water dog was used from fishermen to retrieve nets from the cold water.  

The POMC gene is also present in humans and some rare cases exists of obese people and absence of POMC gene in humans. The gene mutation found in the Labrador could really help understanding more why and how people become obese or are prone to obesity. It is fascinating to me how silly and sweet dogs like labradors are such a genetic mystery not only from POMC gene point of view but also  from an epistatis point of view. So many gene mutations packed in a dog breed is incredible. 

Prolific Research on Azoospermia

Published in August 2024, the article "A novel missense variant in PNLDC1 associated with nonobstructive azoospermia" discusses a new genetic mutation related to nonobstructive azoospermia, possibly causing faulty meiosis and spermatogenesis. The study was conducted by Mouness Rahimian, Masomeh Askari, and fellow genetics researchers.

The article states that approximately half of all infertility cases amongst couples are due to the male partner, the most common form being azoospermia. There are two types of azoospermia, obstructive (OA) and nonobstructive (NOA). This article focuses on nonobstructive, which has been associated with a number of genes. Through testing mice, the research team discovered that missing the PNLDC1 protein reduces testis size and causes infertility. In humans, the PNLDC1 gene is highly expressed in spermatocytes and having a mutated gene for the PNLDC1 protein results in NOA.

The bulk of the research involves clinical investigation of three men, all of whom were brothers, whose parents are first cousins. Blood samples were drawn, and then DNA isolation and sequencing was completed. A protein model for PNLDC1 was also created. The provided pedigree in the article shows that the infertile men received two copies of mutated recessive allele of the PNLDC1 gene. Siblings who were fertile had two wildtype alleles. A physical exam and karyotype analysis of the men showed normal results.

This was a recent publication that I personally found very interesting due to the clinical investigation subjects, who were all products of a consanguineous marriage. This resulted in three of the couple's children receiving mutated copies of a gene, which were seemingly recessive. This really goes to show that inbreeding depression is real, possible, and detectable even among a population as large and diverse as humans. 

Another great reminder from this article--mutated genes make mutated mRNA, makes mutated proteins, makes mutated phenotypes. One single mishap in the DNA can be fatal. In this case, one missense mutation in a single gene results in infertility or other spermatogenic failure disease. While not so sure if this single gene is the cause of NOA, there is strong reason to believe that the gene and NOA are related.

ARTICLES:

https://link.springer.com/article/10.1007/s12041-024-01478-6
https://www.hopkinsmedicine.org/health/conditions-and-diseases/azoospermia#:~:text=Azoospermia%20is%20the%20medical%20term,sperm%20production%20by%20the%20testis.
https://www.rcsb.org/

Mutation Helps Even Carriers of 'Alzheimer's Gene' Avoid Alzheimer's

 

In this article written by Dennis Thompson of HealthDay, published by USNews, the author discusses new research on a cell function-boosting mutation that could help protect even carriers of Alzheimer’s disease from developing it. The mutation causes cells to produce a more powerful version of the protein humanin, which protects against cellular aging. 

Researchers examined over 500 participants, including people 100 years old or nearing 100, and their children. Of these people, they found that 12% of centenarians of Ashkenazi descent carried the P3S variant, which codes for higher levels of humanin. 

They then turned to genetically engineered mice altered to carry the APOE4 gene associated with a higher risk of Alzheimer’s. Researchers treated the mice with PS3 gene-produced humanin. The mice then displayed a marked reduction in amyloid beta, the protein associated with Alzheimer’s that builds up in the brain and impairs cognitive function. This research suggests that the P3S variant may be a reason why carriers of the APOE4 gene avoid Alzheimer’s.  

I found this research to be both fascinating and incredibly relevant to me. My grandmother died of Alzheimer’s, as have many of my other family members. Her caretakers were always giving her medications and I never understood how they helped. This research could lead to future treatments, and as there is a likelihood that I personally carry the APOE4 gene, I find it important to be well informed on the subject. Additionally, I believe it is important for all people to be educated on the disease. It is important to know the signs and symptoms, as dementia can be a common misdiagnosis before motor functions become impaired.   

Article: Mutation Helps Even Carriers of 'Alzheimer's Gene' Avoid Alzheimer's

Additional Info: A rare mutation protects against Alzheimer's disease, Stanford-led research finds

Brain Disorders Are Tied to Genetic Mutations

                                                  

     New research was found which may lead to better diagnostics and the care and treatment for different types of diseases that occur during the early development of the brain, such as epilepsy. In the study, around 300 children coming with different types of forms of MCD gave in some brain tissue samples. These samples were collected when these children underwent epilepsy surgery to treat this disease. With each tissue sample, there was also a blood and saliva sample along with samples from the parents. Along with the samples given by the patients and their parents, there were also a small number of outside people that had no brain conditions that also donated their brain tissue for comparison. Comprehensive screening happened in three steps. The first step examined genes in the mTOR pathway. These genes regulate metabolism, cell growth, and show a huge amount of signaling in brains with epilepsy. The second step identified new genes through unbiased gene discovery to associated genes that may be tied with MCD. The third step consisted of testing a new sample independently to confirm the genes tested and identified in the first and second steps. The study came back with 69 mutated genes tied with MCD for the first time. Twelve of these mutated genes were mutated repeatedly which means that they were found in two different brain samples. The study confirmed that the mTOR pathway is a very important pathway to our body and the dysregulation of it can cause human diseases. However, the study concluded that there is much more to research, as it has never fully gone in depth. There may be more identifiable genes in the studies to come. To test mutation functions, the researchers put one of two forms of the MCD genes into the brains of mice, mutated or non-mutated. When mutated genes were introduced into the mice body, there were abnormalities in the brain very similar to the findings that were seen in humans with MCD which means that the mutated genes are very likely to contribute to the disease and they are vital to cortical development.

     This study was very remarkable. There are lots of patients who deserve better care and it must be hard for patients with conditions like epilepsy or any neurological disorder to receive it. This study just proved that there needs to be more in depth studies of many disorders, but it also proved that there is an insight to the origin of these disorders. This is a start to the treatment of many conditions. This also brings hope to people who are diagnosed with these disorders. This research opened a new area of focus, and with more in depth studies, the findings will lead closer to better treatment and diagnostics, and hopefully a cure.

Sources:

https://www.nimh.nih.gov/news/science-news/2023/researchers-unlock-genetic-mutations-contributing-to-disorders-in-the-brain

https://medlineplus.gov/geneticbraindisorders.html

Inheritance of Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is an inherited condition that affects the connective tissues mostly skin, joints, and blood vessels. The most common form of EDS is hypermobility Ehlers-Danlos syndrome They're all associated with a variety of genetic causes passed on and inherited from parent to child. Depending on the type of EDS it could have come from one or both parents. There are more than 20 genes found to be the cause of EDS. Some of the genes associated with Ehlers-Danlos syndrome, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several types of collagen. When the genes are disrupted the process of creating collagen is affected creating changes in the weakened bones connective tissue stretching which are the characteristic traits of EDS. Inheritance of EDS depends on the type of syndrome type you have. Some have autosomal dominant or autosomal recessive. In recessive two copies of the genes in the cells are altered and one parent is the carrier but does not show signs or symptoms of the disorder. There is a chance that one in four children can get the condition from both parents. In autosomal dominant one copy of the altered gene in each cell cause the disorder and is inherited from one affected parent. While there is also a chance that a kid can get the disorder without any family history of it this is called new de novo gene variants.

Sources

https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125

https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/#inheritance

https://www.ehlers-danlos.com/genetics-and-inheritance/

Gene Therapy Used for the First Time to correct Fatal Illness Before Birth

 

Gene therapy involves modifying defective genes in order to cure a disease or help your body fight the disease better. Researchers have found that this can be done by replacing mutated genes. Certain cells become diseased because some genes do not work or work incorrectly. Replacing the defective gene can aid to treat certain diseases. Gene therapy can also involve fixing the mutated genes by turning them off so that they no longer promote disease and turning on healthy genes to prevent or inhibit disease. If your immune system doesn't attack diseased cells because it does not recognize them as trespassers, gene therapy can be used to train it to be more evident to threats. 

Researchers are still studying how and when to use gene therapy. A recent study has found that a progressive treatment performed before birth may help children born with the rare genetic disorder, Pompe disease. Pompe disease is caused by mutations in a gene that make an enzyme that breaks glycogen down in cells. This causes glycogen to build up throughout the body. This condition is often treated right after birth with replacement enzymes. Although some babies are also born with an immune disorder that blocks the infused enzymes, for which the therapy is inhibited. This new treatment was injected into a mother's abdomen and then guided into the umbilical cord vein of the baby suffering from Pompe disease. After many biweekly infusions in utero, the baby was observed to be born healthy. 

Even though this form of gene therapy had only been performed on one mother, I believe there is a lot of potential for doing more research on this topic. In so, it is not only the enzyme infusion that is the innovation, it is treating this problem earlier and while still in utero.  This is because patients with such early-onset lysosomal storage diseases are ideal candidates for this type of prenatal therapy since organ damage starts in utero. If in-utero enzyme-replacement therapy continues to bring positive results, it will indeed save many lives.  

Unraveling The Biology of a Mysterious Condition: Stuttering

 

Stuttering has been a condition that many have feared to be judged for. Many claim its origins to be from traumas or psychological issues, however, researchers have explored this condition more and discovered that it comes down to genetics and brain differences.

Over 70 million people worldwide suffer from this condition. Its traces lead back ancient China and Rome, but no accepted causes have ever been determined until only a few years ago. Brain scans showed, “…genetic mutations related to stuttering are associated with structural abnormalities in the corpus callosum, a bundle of fibers that connects the two hemispheres of the brain and ensures they can communicate; and the thalamus, a relay station that sorts sensory information to other parts of the brain. Past research has also linked stuttering to the basal ganglia, brain structures involved in the coordination of movement” (Ungar, 2022).

Even with scientific evidence many people still incorrectly believe that people stutter because they are nervous or shy and could make it stop if they tried harder. At the present time, speech therapy is the only way of treatment for stuttering. These discoveries may lead to medications in the near future that can be taken to alter levels of chemicals in the brain thought to be responsible. However, for some stuttering is a part of who they are, and they wouldn’t want to change that.

Overall, this discovery in biology brings about it hope that will decrease the stigma against those with this condition and allow better opportunities for individuals to excel in areas most would consider to be impossible.

A similar article on this story can be accessed here. 

Omicron Variant Defies the Process of Natural Selection

     An article written by Carl Zimmer for the New York Times explores the extreme evolutionary change in the Omicron variant. Variants of the original virus have been surfacing for quite some time, but the Omicron variant is in a league of its own. Zimmer writes, "...earlier variants had differed from the original Wuhan version of the coronavirus by a dozen or two mutations, Omicron had 53." A good number of these mutations were expected to be harmful to the virus, as they were not found in other coronaviruses. In fact, 30 new mutations were discovered in Omicron's spike protein, 13 of which were mutations rarely, or never, found in other versions of the virus. 

    Natural selection selects for traits that increase an organisms fitness in their given environment. If a mutation is beneficial to the virus, it would be rational to believe it would be observed among other variations, such as the Delta variant. Scientists have sequenced millions of coronavirus genomes over the course of the pandemic, but the Omicron variant has mutated in ways to be unlike any of the others. These mutations in its spike protein change the way the virus infects other cells entirely. Instead of the typical way by merging with another cells membrane, the Omicron variants unique spike protein allows the cell to completely engulf it. It then breaks open, infecting the host cell from within. One explanation for the success of the Omicron variant is epistasis. On their own these 13 mutations may have been harmful to the virus, but all the mutations combined just happened to be beneficial. 

    Opinion: How successful these mutations make the Omicron variant is still unclear, but the rate at which the virus is developing these mutations as a whole is mind boggling. 

                                                                                                               - Written by Rachel Roman

Cryptic Coloration Seen in Stick Insects Found to be Linked to Supermutation

A million base pair adaptive deletion, called a supermutation, has been found to be present in stick insects in North America. There are known to be multiple genes that affect the look of an organism in addition to its environment. Factors such as color are affected by such genes and adaptations in non-domesticated organisms. Seven different species of stick insects were looked at for genetic mutations that cause cryptic coloration, known more commonly as camouflage. One particular species, Timema chumash, was found to be able to morph to show various colors, besides the usual greens and browns.

Scientists were able to use genome mapping to find a supermutation, which is a million base pair deletion. The supermutation caused the type of color variation found in the Timema chumash, called a continuum of color variation by Gompert who is an author on the paper, to be converted into the more discrete morphs seen in other species. So far, researchers believe that this may give insight into any gaps or shifts in evolution, which is known to be a continuous process.

Overall, this paper shows great insight into evolution and how what we know about it has changed and will continue to change. Mutations in one species of an organism may have different effects in another. This tells us that the world and its beings are forever changing, and although there are gaps we do not currently have data for, gene mapping may be the process that can answer such questions.

Article: https://www.sciencedaily.com/releases/2020/07/200723143731.htm

Related Article: https://www.usu.edu/today/story/sticking-out-usu-genetic-ecologist-uses-genome-mapping-to-reveal-supermutation

I Remember You

Alzheimer’s disease, a disease that is associated with mental decline, causes up to 80% of the dementia cases.  A woman in Columbia that suffers from Alzheimer’s disease for years has yet not developed dementia.  Scientist have come to believe that it is because of a mutation in her genetic code, she is immune to developing dementia.

She developed Alzheimer’s at a very young age due to a Presenilin 1 (PSEN1) gene being mutated.  It is a “E280A mutation, but this isn’t the mutation that caused her immunity to dementia.  The reason for her dementia immunity is because she has 2 mutations called “Christchurch” mutations in he APOE3 genes.  Having 2 of these mutations have helped block the necessary actions for the body to have unnecessary death of brain cells.  If this mutation could be replicated in the lab and applied to individuals suffering from Alzheimer’s, then it may be able to prevent those individuals from developing dementia.  Because the mutation stopped the Alzheimer’s from progressing into dementia, it may not be able to reverse the effects for people already affected by it.  

Original Article: Woman that Doesn't Develop Alzheimer's