New Human Gene Cluster Discovery Sheds Light on “Genetic Dark Matter”

                            

    Scientists led by Ali Shilatifard have discovered a new repeat gene cluster in the human genome that is unique to humans and other primates. Published in Science Advances, the study reveals a previously hidden region of DNA that could reshape how we understand gene regulation and evolution.

    The newly identified cluster produces a protein called ELOA3, related to transcription machinery that controls how genes are expressed. Unlike typical genes, which appear once or in small numbers, this cluster contains multiple repeated copies of the same gene located together. Interestingly, the number of copies varies widely between individuals, adding another layer of genetic diversity.

    For years, large portions of the genome made up of repetitive DNA were considered “genetic dark matter” because older sequencing methods couldn’t properly analyze them. With newer long-read sequencing technologies, researchers can now explore these regions and uncover their biological significance. The team found that ELOA3 plays a role in regulating RNA polymerase II transcription, but through distinct mechanisms compared to related proteins. This suggests the gene cluster may contribute to subtle differences in gene expression between individuals and across primate species.

    Beyond basic genetics, this discovery has important implications. Because gene regulation is tightly linked to diseases like cancer, understanding how ELOA3 works could eventually support targeted drug development. It may also help explain aspects of human evolution, since the gene cluster appears conserved across primates but varies in copy number.

Article Link: https://news.feinberg.northwestern.edu/2023/11/22/new-human-gene-cluster-sequence-discovered/

Additional Resource: https://www.science.org/doi/10.1126/sciadv.adj1261

Breakthrough Treatment for High-Cholesterol

 A new gene therapy treatment inhibiting the protein PCSK9 for the treatment of hypercholesterolemia.

Figure: This drug aims to inhibit a protein that increases the risk of heart disease by damaging arteries.

    Previously, high cholesterol has been treated with statin medications, causing side effects of muscle weakness, increased blood sugar, and gastrointestinal issues. Recently, targeting the development of PCSK9 proteins has become increasing more prevalent. PCSK9 proteins cause harm by attaching themselves to LDL receptors and inhibit these proteins from removing excess cholesterol, eventually causing the buildup of LDL cholesterol.

    The University of Barcelona has developed a new method of treating hypercholesterolemia with gene therapy. By utilizing polypurine hairpins, short molecules of DNA that bind to specific molecules, specific sites coding for PCSK9 are targeted and blocked from transcription. The subsequent increase in LDL receptors allows the body to pull cholesterol out of the blood stream and reduce plaque formation in the arteries. This new treatment is a safer way to regulate high cholesterol and risk of heart disease.

Sources:

https://www.sciencedaily.com/releases/2026/05/260501013525.htm

https://www.sciencedirect.com/science/article/pii/S0006295225002382?via%3Dihub

Sienna Fedoruk Regeneration of Limbs

 7. Regeneration of Limbs (Sienna Fedoruk) 

Regeneration is an animals ability to replace damaged or lost body parts without having scar tissue damage in which stem cells play a pivotal role.  In a study done by Nature Communications in January 22 researcher, Igor Schneider, examined regeneration in an animal capable of fin regrowth. He compared this fish to axolotl and zebra-fish to find all three animals initiate the process of regeneration very similarly. He saw that immune cells respond to the injury first and reduce inflammation, then the cells "switch" to low-oxygen mode to fuel regrowth while the RBC regulate healing. Finally genes involving limb formation and DNA repair are triggered and activated which allows for no scare tissue damage. The importance of this study showed how ancient this process is because of how widely these mechanisms are used in prehistoric animals yet lost in humans.  

Other link: https://www.deepseaworld.com/blog/how-do-animals-regenerate-limbs/  

https://www.sciencenews.org/article/regeneration-of-fins-and-limbs-relies-on-a-shared-cellular-playbook   

April 30

Sienna Fedoruk The Genetics Behind Bipolar Disorder

 6. The Genetics Behind Bipolar Disorder (Sienna Fedoruk) 

Bipolar disorder is known as a form of manic depression that includes extreme mood swings. People with this disorder experience extreme highs and the lowest of lows including hypo-mania and depression and these episodes often last for weeks or days at a time. In a study done by the National Institutes of Health researchers got to examine the genetics behind the disorder. They analyzed over 150,000 individuals with bipolar disorder and 2.8 million without from all over the world. "The results revealed an over four-fold increase in the number of genes associated with bipolar disorder, identifying nearly 300 gene locations and 36 unique genes most likely to be linked to the disorder"(NIH 2025). Within these overlaps researchers found that these genes often associate with other mental illnesses such as depression and schizophrenia. Importantly, the findings showed that bipolar disorder has its own distinct genetic patterns which can help with personalized treatments differing in severity to help people with the disorder 

Other link: https://www.mayoclinic.org/diseases-conditions/bipolar-disorder/symptoms-causes/syc-20355955 

https://www.nimh.nih.gov/news/science-updates/2025/study-illuminates-the-genetic-architecture-of-bipolar-disorder   

April 29 

Sienna Fedoruk Brain Disorders

 5. Brain Disorders (Sienna Fedoruk) 

Brain disorders and disabilities are one of the things that scientists are still looking into because of how many mutations the brain can have along with how many ranging symptoms there are. They can impact a person's ability to function when carrying out basic activities or they can affect someone's speech, look, memory, or even be fatal.  

This specific article goes into how targeting the junk in their genes ultimately "tackles" the disorder. Half of the human genome is repeated DNA sequences that are classified as junk DNA which are know shown to sometimes cause disease by regulating these genes. Short tandem repeats (STR's) are being seen to expand unexpectedly linking to around 50 neurological disorders such as ALS. Researcher Xiao Shawn Liu is the scientist behind targeting these junk DNA sequences using CRISPR tools to control the repeats leading to restored cell function, reduced neuron damage, and treating brain tumors! 

https://www.cuimc.columbia.edu/news/tackling-brain-disorders-targeting-junk-their-genes 

Other Link:https://my.clevelandclinic.org/health/diseases/22934-brain-diseases 

 April 24 

Sienna Fedoruk Treatment of SMA

 4. Treatment of SMA (Sienna Fedoruk) 

Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness as time progresses. There are five known sub types all ranging in severity and onset age in which there is no cure but medication and therapy could manage symptoms.  This article gives insight on a new UK screening test to see if babies have SMA by using a heel-prick blood test. SMA is caused through a genetic mutation leading to progressive muscle weakness including, neuron survival, breathing, and swallowing in which a life expectancy can be only two years. However, if detected early, gene therapy could give these families and children a long life with no visible effects of the disease.  

Grayce Pearson was diagnosed too late and now lives with SMA type 2 as she manages her symptoms through medication. Due to her late diagnosis treatment options are limited which will most likely lead to motor loss. The importance of this heel-prick test could save families from grieving a short lived life of a child and be able to identify and manage the disease before symptoms arise.  

https://www.bbc.com/news/articles/cx26glrw310o 

Other: https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma  

April 23 

Sienna Fedoruk Kangaroo Island: Koala's Surviving Chlamydia

 3. Kangaroo Island: Koala's Surviving Chlamydia (Sienna Fedoruk) 

Chlamydia is a very common sexually transmitted infection that can be spread through intercourse or maternal transmission through the spread of bacteria. In Australia up to 88% of koalas have been affected by this epidemic caused by the bacteria Chlamydia pecorum often leading to death among this population. This specific article goes into detail about a koala population on Kangaroo Island that is free of chlamydia despite it being 12 miles away from the main island. Genetically, this population of koalas comes from a very limited gene pool because of how secluded they are leading to a lot of inbreeding and are said to be "genetically fragile"(BBC). 

Although their isolation has protected them from the fatal epidemic, their evolutionary potential is in danger. The main island might be affected by chlamydia but as time goes on the genetic diversity among these koala's will mutate and create an antibody. Whereas the isolated koalas will slowly start to degrade through genetic mutations linked to inbreeding. However, if the two mix together maybe an antibody could be produced sooner due to the mixing of different alleles! 

 https://www.bbc.com/future/article/20260401-the-island-saving-koalas-from-chlamydia 

Other Source:https://my.clevelandclinic.org/health/diseases/4023-chlamydia    

April 22

Sienna Fedoruk DNA and Second Code

 2. DNA and the "Second Code" (Sienna Fedoruk) 

This study showed an insight on the genetic code offering cells that detect inefficient genetic instructions ultimately silencing them, leading to a hidden layer of DNA control.  DNA is made up of four nucleotide bases that have 3 letter codons that tell cells what protein codes for what. Scientists found that while looking at quality control using CRISPR screening they discovered a RNA-binding protein called DHX29 which interacts with the 80S ribosome. The significance of this discovery was that DHX29 associated with the ribosomes reading non-optimal codons and further works with the GIGYF2•4EHP protein complex to suppress mRNA's containing these codons and silencing them! 

These new findings gave scientists a new outlook on gene regulation through codon choices playing a role in gene expression. With these findings scientists are hoping that DHX29 mechanisms could give new insights on cell differentiation, cellular balance, and cancer research.   

https://www.sciencedaily.com/releases/2026/04/260408225946.htm 

Other Link: https://www.fjc.gov/content/361230/DNA-basics-nucleotides-genes-genome   

April 15