A significant advancement in knowledge of the link between cognition and genetics has been made thanks to a study led by Université de Montréal graduate students Guillaume Huguet and Thomas Renne, working under the supervision of medical geneticist Sébastien Jacquemont, an associate professor of pediatrics and a researcher at the UdeM-affiliated CHU Saint-Justine.
Published in Cell Genomics, the research explored how the copy number variation, or CNV, of certain DNA segments can influence cognitive abilities.
Analyzing the CNV of nearly 260,000 people in the general population, the scientists were able to compare each individual’s CNV and cognition to define a reference model—a kind of “map” of the effects of CNV on cognition, such as the intelligence quotient and memory—and to establish links between these CNVs and achievements within the brain, as well as in other organs and tissues.
Common genetic variants may underlie autism spectrum disorder and schizophrenia across human populations, according to a study appearing September 11th in the journal Cell Reports. In line with previous studies in Caucasians, the researchers found that Japanese individuals with autism spectrum disorder and schizophrenia have overlapping copy number variations (CNVs)—inter-individual variations in the number of copies of a particular gene.
“The strength of our study is the systematic head-to-head comparison of pathogenic CNVs and biological pathways between autism spectrum disorder and schizophrenia,” says senior study author Norio Ozaki of Nagoya University Graduate School of Medicine. “Previous studies in Caucasian populations found overlap in pathogenic CNVs between the two disorders, but their analyses were limited to a small number of genes and CNV loci.”
Autism spectrum disorder and schizophrenia have complex inheritance patterns, with multiple genetic and environmental factors influencing disease risk. Available evidence points to genetic overlap between the two clinically distinct disorders. For example, they tend to co-occur at a higher rate than would be expected in the general population, and a large epidemiological study showed that a family history of schizophrenia in first-degree relatives is a risk factor for autism spectrum disorder. In particular, previous studies have revealed that these two disorders are associated with an increased burden of CNVs, and that rare CNVs in specific loci are shared risk factors for both disorders.
A study from the University of Pittsburgh reveals a surprising link between Alzheimer’s disease and HSV-1. The research shows tau protein may initially protect the brain from the virus but later contribute to damage.
In the well-known thought experiment known as the prisoner’s dilemma, one individual has to decide whether to stay silent or talk to the police about their crime based on how they anticipate an accomplice will react. RIKEN researchers have gained insights into how the brain incorporates such predictions about choices made by others into the decision-making process.
Past studies have identified brain structures and circuits involved in predicting and interpreting the behavior of others. However, it was unclear how predictions of others’ behavior influence our choices.
Hiroyuki Nakahara of the RIKEN Center for Brain Science and his team hope to uncover more about this process. “We’re especially interested in understanding how human social capabilities are realized in the human brain,” Nakahara says.
A team of physicists and engineers at the University of Colorado Boulder has discovered a new way to measure the orientation of magnetic fields using what may be the tiniest compasses around—atoms.
The group’s findings could one day lead to a host of new quantum sensors, from devices that map out the activity of the human brain to others that could help airplanes navigate the globe. The new study, published in the journal Optica, stems from a collaboration between physicist Cindy Regal and quantum engineer Svenja Knappe.
It reveals the versatility of atoms trapped as vapors, said Regal, professor of physics and fellow at JILA, a joint research institute between CU Boulder and the National Institute of Standards and Technology (NIST).
People with shorter telomeres — the protective caps at the ends of their chromosomes — may have a higher risk of developing age-related brain diseases such as stroke, dementia, and late-life depression (typically diagnosed at age 60 or older). This finding comes from a preliminary study set to be presented at the American Stroke Association’s International Stroke Conference 2025, a leading global event for stroke and brain health research, taking place in Los Angeles from February 5–7, 2025.
Telomere length in white blood cells (leukocytes), known as leukocyte telomere length, is a well-established marker of biological aging. As people age, telomeres naturally shorten, reducing their ability to protect chromosomes, which accelerates cellular aging and increases vulnerability to age-related diseases. While telomere length is partly determined by genetics, ancestry, and gender, it is also influenced by lifestyle factors and environmental stressors such as diet, exercise, and pollution.
Dr James Cooke, PhD trained is a neuroscientist, speaker, and writer. He holds three degrees from Oxford University (a PhD and Masters in Neuroscience & a BA in Experimental Psychology). He has conducted scientific research for over a decade at institutions such as Oxford University, University of California, Berkeley, University College London, Trinity College Dublin, and Riken Brain Sciences Institute in Tokyo. James is the author of The Dawn of Mind: How Matter Became Conscious and Alive (2024), which synthesizes science and spiritual insight to offer a radical solution to the Hard Problem of Consciousness. He is the founder of the \.
Dr. Simon Stringer. Obtained his Ph.D in mathematical state space control theory and has been a Senior Research Fellow at Oxford University for over 27 years. Simon is the director of the Oxford Centre for Theoretical Neuroscience and Artificial Intelligence, which is based within the Oxford University Department of Experimental Psychology. His department covers vision, spatial processing, motor function, language and consciousness — in particular — how the primate visual system learns to make sense of complex natural scenes. Dr. Stringers laboratory houses a team of theoreticians, who are developing computer models of a range of different aspects of brain function. Simon’s lab is investigating the neural and synaptic dynamics that underpin brain function. An important matter here is the The feature-binding problem which concerns how the visual system represents the hierarchical relationships between features. the visual system must represent hierarchical binding relations across the entire visual field at every spatial scale and level in the hierarchy of visual primitives.
We discuss the emergence of self-organised behaviour, complex information processing, invariant sensory representations and hierarchical feature binding which emerges when you build biologically plausible neural networks with temporal spiking dynamics.
00:00:00 Tim Intro. 00:09:31 Show kickoff. 00:14:37 Hierarchical Feature binding and timing of action potentials. 00:30:16 Hebb to Spike-timing-dependent plasticity (STDP) 00:35:27 Encoding of shape primitives. 00:38:50 Is imagination working in the same place in the brain. 00:41:12 Compare to supervised CNNs. 00:45:59 Speech recognition, motor system, learning mazes. 00:49:28 How practical are these spiking NNs. 00:50:19 Why simulate the human brain. 00:52:46 How much computational power do you gain from differential timings. 00:55:08 Adversarial inputs. 00:59:41 Generative / causal component needed? 01:01:46 Modalities of processing i.e. language. 01:03:42 Understanding. 01:04:37 Human hardware. 01:06:19 Roadmap of NNs? 01:10:36 Intepretability methods for these new models. 01:13:03 Won’t GPT just scale and do this anyway? 01:15:51 What about trace learning and transformation learning. 01:18:50 Categories of invariance. 01:19:47 Biological plausibility.
Pod version: https://anchor.fm/machinelearningstre… https://en.wikipedia.org/wiki/Simon_S… / simon-stringer-a3b239b4 “A new approach to solving the feature-binding problem in primate vision” https://royalsocietypublishing.org/do… James B. Isbister, Akihiro Eguchi, Nasir Ahmad, Juan M. Galeazzi, Mark J. Buckley and Simon Stringer Simon’s department is looking for funding, please do get in touch with him if you can facilitate this. #machinelearning #neuroscience.
People with diabetes have a higher risk of developing Alzheimer’s disease (AD) raising a possible link between the cells that are disordered in diabetes—pancreatic β cells—and AD. A study reveals these cells may secrete neuroprotective factors.
