Ancestry-specific genetic variants linked to multiple sclerosis risk

A landmark study has uncovered novel ancestry-specific genetic variants linked to multiple sclerosis
A groundbreaking study has discovered unique genetic variants associated with multiple sclerosis that are specific to different ancestral backgrounds.

A groundbreaking study has discovered new genetic variants specific to different ancestral backgrounds that are associated with multiple sclerosis (MS). This offers fresh insights that could potentially change the way the disease is treated in various affected populations. The research, which was presented at ECTRIMS 2024, was conducted by the Alliance for Research in Hispanic MS (ARHMS) Consortium. It is the first extensive study to uncover genetic effects specific to ancestry that are linked to the risk of developing MS.

In a thorough analysis of over 7,000 individuals from self-reported Hispanic (n=4,313; 2,201 with multiple sclerosis, 2,112 controls) and African American (n=3,085; 1,584 with multiple sclerosis, 1,501 controls) backgrounds, researchers identified important genetic locations linked to the risk of multiple sclerosis (MS). These findings underscore the potential of genetic studies that consider ancestry to reveal previously unknown risk factors for MS and to enhance the accuracy of efforts to map the disease across different racial and ethnic groups.

A new genetic location has been discovered on chromosome 13q14.2, specifically within African genetic signatures. The variant, rs3803245, is situated in a chromosome region that is highly accessible to specific proteins in T-cells, indicating that this region may function as a regulatory site in T-cells. T-cells play a crucial role in the pathology of MS (multiple sclerosis).

The research has identified two distinct genetic variants associated with MS risk on chromosome 1p35.2. One variant is specific to Native American haplotypes, while the other is specific to European haplotypes. The Native American variant, rs145088108, significantly increases the risk of MS in Hispanics and African Americans (OR=2.05) compared to the European variant, rs10914539 (OR=1.37) based on data from a European cohort of 15,000 MS patients and 27,000 controls.

Dr. McCauley, a professor at the University of Miami Miller School of Medicine and the leader of the study, explains, “The variant found in Native American genetic signatures alters the structure of a protein, which might explain why it is more strongly associated with the risk of multiple sclerosis. In contrast, the variant found in European genetic signatures is located in a non-coding part of the gene, making it less clear how it contributes to the disease.”

In a cross-ethnic meta-analysis, the researchers successfully conducted a detailed mapping of seven known MS risk areas. Dr. McCauley added, “The genetic variations found in these areas could lead to the development of new, more targeted treatments for MS, some of which may be specific to certain populations. It is highly valuable to narrow down our focus to these regions, and with further research, there is potential to discover new targets for drug development in the future.”

“We anticipated finding some genetic diversity, but discovering African and Native American-specific alleles that affect the risk of multiple sclerosis is both exciting and encouraging. As our group of participants grows, we hope to find more ancestry-specific alleles that are important for understanding the different characteristics of the disease and addressing health differences in people with multiple sclerosis. We are very thankful to our study participants and their families for taking part in this important research, and we encourage more patients from underrepresented populations to join our efforts.”

Dark Side of Autism – Late Autism Diagnosis

The Dark Side of Autism series covers areas of Autism that I personally feel are misrepresented or overlooked. In this video, I talk about Late Autism Diagnosis, and the difficulties faced after diagnosis, assumptions made by others, and the lack of freedom afforded which you sorely need.

Getting autism and emotions right?

Autistic adults experience complex emotions, a revelation that could shape better therapy strategies for neurodivergent people, says Rutgers researcher
According to a researcher at Rutgers, autistic adults experience complex emotions, which could shape better strategies for neurodivergent individuals.

What does giddiness or joy or anger feel like?

In a Rutgers study, a group of autistic adults described giddiness as feeling like “bees,” while small moments of joy were compared to “a nice coffee in the morning” that leads to “a sense of elevation.” They also explained that anger begins with a “body-tensing” sensation and can lead to headaches.

Sure, here’s a clearer version of the text you provided: Despite common beliefs and previous research suggesting that autistic individuals struggle to express their emotions or have limited emotional responses, a study conducted at Rutgers and published in the American Journal of Occupational Therapy has found that many autistic adults are highly attuned to their feelings and can articulate them in vibrant and detailed ways.

“What if everything we know about autism is incorrect?” asked Aaron Dallman, an assistant professor of occupational therapy at the Rutgers School of Health Professions and the author of the study.

“We spend all this time problematizing autism, rather than doing the work to understand what it’s like to be autistic,” he said. “The popular idea that autistic people don’t have rich, emotional lives is simply not true.”

To understand how young autistic adults describe their emotions, navigate their interactions with others, and identify potential strategies to bridge the emotional gap between autistic and nonautistic people, Dallman conducted a series of focus groups. The groups were designed to understand individual experiences.

Twenty-four autistic adults ages 18 to 35 participated in one of six video conference focus group interviews. Dallman facilitated the discussions, which included questions related to how emotions manifest physically, what participants feel during therapy sessions, and how participants communicate about their emotions with others.

A graduate research assistant created and anonymized transcripts from the sessions. The data was then coded and analyzed using a qualitative research methodology that explores how individuals make sense of their experiences.

Many participants expressed that simple emotional words like “happy” or “sad” were not enough to capture their intricate emotional experiences. Instead, they used detailed and dynamic language to describe their emotions, often combining traditional emotional words with references to physical sensations, especially in the stomach.

Participants also reported that exchanging feelings with nonautistic people can be challenging, especially when nonautistic individuals misinterpret the emotional expressions of an autistic person.

“I’ve had people say, like, ‘Wow, you look really happy right now,’ when I’m just kind of chilling out,” one participant said. “I’m not sure what about me looks extremely happy.”

Since the first descriptions of autism, difficulties with human interaction have been considered a common feature of autism spectrum disorder. Dallman said confusion arises when therapists or non-autistic people try to impose neurotypical definitions of emotions – a smile must mean “happy,” a frown “sad” – when these labels don’t apply to autistic people.

Eye contact is a perfect example, according to Dallman. For non-autistic people, locking eyes suggests social interest, but it is often unpleasant for autistic people. Similarly, autistic individuals often use stimming techniques—repetitive actions such as hand flapping or rocking—to regulate emotions, which may be viewed negatively by non-autistic individuals.

Dallman stated that his findings could lead to new autism strategies. Rather than advocating for changes in how autistic people communicate, he suggested that anyone with an autistic person in their life should focus on improving mutual understanding between individuals with diverse ways of experiencing the world.

“We don’t have to change everyone, but let’s think about changing the classroom or caregivers’ attitudes so they understand what messages an autistic individual is communicating and how they express their emotions,” Dallman said. “It’s time for our communities to embrace the unique perspectives and contributions of autistic community members.”

Beyond labels: A new framework for neurodiversity and mental health

A new article introduces a dimensional approach to understanding the mental health needs of neurodivergent people
A new article introduces a dimensional approach to understanding the mental health needs of neurodivergent people.

A groundbreaking article published in the leading psychiatry journal World Psychiatry challenges the traditional approach to diagnosing neurodivergent conditions (also known as “neurodevelopmental disorders” in the medical literature), such as autism, ADHD, and learning disabilities. The research introduces a new transdiagnostic that views these conditions as points on a spectrum rather than distinct categories and recognizes their frequent overlap with mental health challenges, such as depression and anxiety. 

Around 15% of the global population is neurodivergent, often experiencing multiple conditions at the same time. Current diagnostic systems, such as the DSM-5 and ICD-11, separate these conditions into distinct categories or “labels,” overlooking their shared characteristics and complex interplay. Dr Giorgia Michelini, a Lecturer in Psychology at the Queen Mary University of London, is leading an international group of experts in the field to propose a more holistic approach that focuses on the commonalities among these conditions.

“Dr. Michelini stated, ‘By acknowledging the common features of neurodivergent conditions, we can gain a more precise and thorough understanding of their varied expressions. This fresh perspective has the potential to transform how we recognize, evaluate, and assist the mental health requirements of neurodivergent individuals.'”

The study introduces the concept of a “neurodevelopmental spectrum,” which encompasses the shared characteristics of various neurodivergent conditions. This approach acknowledges that individuals vary in the degree to which they exhibit these characteristics, allowing for a more nuanced and personalized assessment. It also provides a better way to identify and support additional mental health challenges, which affect the majority of neurodivergent people.

“Dr. Michelini explained that moving beyond rigid diagnostic labels will allow clinicians to provide more personalized support and interventions for the diverse range of difficulties experienced by neurodivergent individuals. By concentrating on an individual’s unique strengths and challenges, we can enhance their overall well-being and quality of life.”

This research represents a significant advancement in neurodiversity and mental health. Dr. Michelini’s work challenges the status quo and offers a fresh perspective, with the potential to transform the lives of millions of neurodivergent individuals.