Fundraising and Scientific Insights
This week marks our fundraising campaign at Naked Capitalism, a pivotal moment in our efforts to address corruption and predatory practices, especially within the financial sector. As of now, 1,425 generous donors have contributed to our cause. We invite you to join us by visiting our donation page, where you can explore various giving options including checks, credit cards, PayPal, and more. To understand the purpose of this fundraiser, our achievements over the past year, and our aspirations, please read on.
Part One: Genes and Disease
The Current Administration proclaimed early in its first year that the cause of autism would be revealed by September. They met this deadline when the Secretary of Health and Human Services announced a revelation that has been largely misunderstood: Tylenol. However, the reality is far more complex. No credible scientist believes that Tylenol (or acetaminophen, as it is known in the USA and paracetamol in Europe) is a direct cause of autism. While there might appear to be some correlation—potentially linked to maternal illness during pregnancy—autism’s roots are multifactorial and deeply embedded in the individual’s environment. Genetics play a significant role, with specific gene variants leading to behaviors that align with the autism spectrum.
Complex issues rarely yield to simplistic solutions, which seems to be the modus operandi of the Current Administration when tackling perceived dilemmas (such as tariffs or the conflation of criticism of Israel with antisemitism). The interplay between genes and disease is intricate, often obscured and not easily decipherable. While there are clear cases, such as sickle cell disease—caused by a single mutation in the beta chain of hemoglobin—most health conditions reveal a more convoluted relationship. For example, cystic fibrosis is primarily driven by the deletion of just one amino acid in the CFTR protein, which constitutes a mere 0.07% of the total protein composition, yet the impact is profound.
This complexity is adeptly explored in 1 Gene, 1 Disease No More by Santhosh Girirajan from Penn State, highlighting the necessity of considering the broader genetic landscape in medicine. Genetic inheritance may sound simple, leading many to believe that a single gene dictates a trait or condition. In practice, however, much of genetics is multifaceted and intricately woven into the fabric of coherence and discord among multiple conditions.
Your DNA holds countless genetic variants inherited from your ancestors or formed spontaneously. These variants range from common to rare, collectively influencing not just physical traits, like height and eye color, but also health issues such as diabetes and heart disease. My research team recently published findings in the journal Cell, illuminating how a genetic mutation associated with neurodevelopmental and psychiatric disorders, like autism and schizophrenia, is influenced by an array of other genetic variants. This supports the notion that examining the entire genome, rather than isolating single genes, will enhance our understanding of genetic predispositions and disease progression.
For instance, while a primary variant may instigate a condition, secondary variants can modify its development. Imagine a song where the primary variant sets the melody while secondary variants provide the bassline and rhythm, altering the overall experience.
Consequently, two individuals with the same genetic mutation might exhibit profoundly different symptoms—ranging from severe to none at all—due to the influence of these secondary variants, a phenomenon known as variable expressivity. Usually, a higher number of secondary variants in conjunction with a primary variant correlates with more serious manifestations of a condition.
For an accessible overview of the complex relationship between genes and disease, I highly recommend this article from The Conversation. The foundational research titled Genetic Modifiers and Ascertainment Drive Variable Expressivity of Complex Disorders (open access) offers visual evidence that enriches understanding.
As neurodevelopmental disorders continue to evolve as a field of study, the interplay of primary and secondary variants becomes increasingly evident in their diverse presentations. For instance, recent studies have noted the impact of polygenic risk on individuals with pathogenic copy-number variations, such as 22q11.2 deletion associated with schizophrenia. Furthermore, ascertainment biases contribute to understanding variations in expressivity, as many pathogenic variants are more prevalent in specific populations, leading to different health outcomes.
The curiosity continues: might Tylenol also be linked causally to obesity or musculoskeletal diseases? One can only speculate. It’s important to note that the article detailing our findings was published in Cell, a top-tier biomedical journal, emphasizing the value of collaboration in addressing complex biological issues.
Part Two: The Future of Biomedical Research
Biomedical research is likely to expand globally, particularly in the countries represented by our paper’s authors. The leading force in this field is expected to be China. We can anticipate significant interest in positions like those offered by the Centre for Genomic Regulation, highlighting opportunities for U.S. scientists:
- Work alongside world-class scientists at one of Europe’s premier biomedical research institutes.
- Join a collaborative environment with nearly 70% international students.
- Access cutting-edge core technologies in genomics, proteomics, bioinformatics, and imaging.
- Enjoy life in Barcelona with stunning views of the Mediterranean Sea.
Positions come with fully funded four-year PhD opportunities, competitive salaries, and comprehensive benefits—all attractive prospects for emerging scientists.
Part Three: The State of Scientific Literature
The landscape of scientific publishing is evolving, with the rise of predatory journals leading to concerns over the integrity of research. As noted, some established journals remain profitable despite questionable practices, while newer predatory models have emerged. This has led to an influx of low-quality publications, complicating the research landscape, particularly in fields like cancer research.
Recent articles highlight how an AI tool has flagged a significant number of cancer studies as potentially suspect. These paper mills produce fake research papers, sell authorships, and include fabricated data. While integrity specialists can identify many of these issues, understanding the full extent of the problem remains challenging. The AI tool tested indicates a promising ability to discern problematic publications, but cautions surrounding its implementation are warranted.
Part Four: The Nobel Prize in Physiology or Medicine
Noticeably, physiology precedes medicine in the award. This year, the 2025 Nobel Prize will recognize researchers Mary E. Brunkow, Fred Ramsdell, and Shimon Sakaguchi for their work on peripheral immune tolerance. Although no therapies based on Tregs (regulatory T cells) have yet been approved, several are undergoing preliminary trials. The timeline from basic discovery to practical application often spans decades, demonstrating the need for sustained inquiry and collaboration across laboratories.
The current administration’s cancellation of NIH subgrants for international collaborators poses a grave threat to promising research initiatives, highlighting how integral curiosity-driven basic research is to medical advancements.
Part Five: A Call for Independent Political Action
Addressing working-class concerns independently of political parties is vital. Les Leopold’s “Rust Belt” survey advocates forming the Independent Workers Political Association to champion this cause. Key platforms may include:
- Ensuring that companies benefiting from taxpayer money do not lay off workers.
- Guaranteeing stable, decent-paying jobs for all.
- Raising the minimum wage to support families.
- Implementing price controls on pharmaceuticals and food.
The data indicate strong support for such initiatives in several Midwestern states, signaling a shift in political sentiment away from established norms.
Part Six: Reflections on Our Political Climate
In the vein of Newton’s Third Law of Motion, current political actions elicit strong reactions. The complexities surrounding figures like James Comey illustrate how past decisions may yield future consequences that challenge existing power structures.
As we navigate these uncertain times, it’s essential to consider the broader implications of our choices and reflect on how they shape the future. Thank you for your continued support, and see you next week!