It’s possible that I shall make an ass of myself. But in that case one can always get out of it with a little dialectic. I have, of course, so worded my proposition as to be right either way (K.Marx, Letter to F.Engels on the Indian Mutiny)
Tuesday, June 16, 2026
A single broken gene reads aloud in several dialects across one Portuguese island family
In a Genomic Psychiatry peer-reviewed article, researchers studying 173 multiplex families from the genetically isolated Azores and Madeira describe an ultra-rare loss-of-function variant in CHD2 that travels through a three-generation pedigree
PISCATAWAY, New Jersey, USA, 16 June 2026 — For most of a century, psychiatry has kept its disorders in separate rooms. Schizophrenia in one. Bipolar disorder in another. Autism somewhere down a different corridor entirely. The arrangement was orderly, and it organized clinics and insurance codes and the words that families carried home from the appointment. It was also, as anyone who ever sat with real patients understood, a little bit of a fiction at the edges. The diagnoses were tidy. The family histories were not.
A study published this week in Genomic Psychiatry walks back into those bloodlines and finds the walls thinner than the manuals would have us believe. Carlos N. Pato, Michele T. Pato, and a team spread across more than a dozen institutions returned to a place that geneticists prize and tourists merely photograph: the Azores and Madeira, the scattering of Portuguese islands that rise green and steep out of the open Atlantic. The cover of this issue looks down on one of them, the town of Horta on Faial, its red roofs crowded along a thin neck of land between two harbors.
Why These Islands?
The answer is in the soil and the centuries. Settlers arrived roughly six hundred years ago, a small founding population, almost entirely Portuguese, and then the place was largely left alone. The genetic deck, so to speak, was shuffled once and rarely shuffled again. That is the kind of quiet, contained ancestry that lets a rare mutation stand out from the noise the way a single lit window stands out on a dark hillside. From this population the researchers assembled the Portuguese Island Collection, a resource built patiently since the 1990s and followed across four generations of illness and recovery.
The Boxes Have Always Leaked
The current report examines 173 families in which at least two members carried a serious diagnosis. In 49 of them, just over 28 percent, the same family tree bore both psychosis and mood disorder: schizophrenia in one relative, a crushing depression or bipolar disorder in the next. In a smaller set, 12 families or roughly 7 percent, autism and intellectual disability folded into the same pedigree alongside schizophrenia or mood disorder. The categories, in other words, refused to stay in their lanes. The denser the family, the more the diagnoses mixed.
“We went back to the families because the families never honored the boundaries we drew on paper,” said Carlos N. Pato, MD, PhD, Executive Chair of the Department of Psychiatry at Rutgers, The State University of New Jersey, and corresponding author of the study. “When you study an isolated founder population like this one, the shared ancestry and the shared environment let you see the inherited architecture that larger case-control studies tend to dilute.”
One Family, One Gene, Three Readings
What lifts the work above careful bookkeeping is a single family. In a three-generation pedigree, the team performed whole-genome sequencing and found an ultra-rare stop-gain mutation in CHD2, a gene that helps build chromatin architecture while the brain is still under construction. CHD2 is usually discussed in the vocabulary of childhood epilepsy and autism, and it carries the highest-confidence rating for autism risk. Here it does something stranger. It travels down three generations and surfaces, in most of the relatives who carry it, as schizophrenia. In one sibling it appears instead as autism with intellectual disability. The mutation is identical. The destination is not. A single broken gene, it turns out, can be read aloud in several dialects.
The variant itself is almost vanishingly rare. It did not appear at all in two large reference databases for schizophrenia and bipolar disorder, and it surfaced exactly once among more than 800,000 unrelated people in a global genomic catalog. The relatives across the second and third generations who were sequenced carry it and live with schizophrenia. The father of one affected grandson is an obligate carrier diagnosed with schizophrenia, though he himself was never sequenced.
“A rare variant with a large effect, sitting inside a family like this one, gives us something a database never can,” said Michele T. Pato, MD, co-first author of the study. “It lets us ask why the same mutation becomes one illness in one person and a different illness in their sibling. The answer to that question is where new treatment targets are likely to be hiding.”
The Woman Who Should Have Been Sick
There is a quieter figure in this pedigree, and she may matter most. The grandmother carries the same broken gene, and she is, by every account in the record, well. The variant did not spare her grandchildren. It did not spare a relative who meets full criteria for schizophrenia yet may not carry the mutation at all, a possible phenocopy that the authors deliberately keep in the frame rather than dismiss as an inconvenient asterisk. But it spared her. Three readings of one mutation in one family: illness with the variant, illness without it, and the variant carried in a body that never fell ill. The authors point to the work of Mayana Zatz on older people who harbor pathogenic variants and yet never develop the expected disease. Whatever held the line in that grandmother is, in a sense, the closest thing in this family to a medicine.
What the Authors Caution
The team is careful about what the work does and does not show. Autism was originally an exclusion criterion when the collection began, which means the 7 percent figure almost certainly undercounts autism and intellectual disability in these families. One key relative was sequenced but failed quality control, so whether that person carries the variant remains unknown, and the pattern of inheritance is therefore less than airtight. The proposed molecular consequences of the truncation, which clips the final seventeen amino acids from the protein near a site that other molecules may chemically modify, remain, in the authors’ own framing, speculative until they are tested in living cells. Pedigree size and the way families were ascertained may also shape the numbers. These are findings to build on, not verdicts to hand down.
A Map Drawn From Family Histories
An accompanying editorial in Genomic Psychiatry, by Julio Licinio, frames the study as a meeting point between two opposite approaches. Large consortium studies have been dissolving the old diagnostic partitions from the top down, finding that most genetic signal is shared across disorders rather than specific to any one. Pato and colleagues arrive at the same destination from the bottom up, one family at a time. The two directions meet in the middle, and the handshake is convincing. The stated hope is that a handful of these rare variants will converge on a few downstream biological pathways, and that those pathways might one day yield treatments useful across the diagnostic spectrum rather than locked inside a single box. It is a long road. This study is a reminder that the most modern insight sometimes arrives by the oldest method we have, which is to sit down with a family and listen to who got sick, and when, and how.
The peer-reviewed research article in Genomic Psychiatry titled “Multiplex Portuguese families as a lens into rare mutations and the shared genetic architecture of schizophrenia, mood disorders, and autism spectrum disorders,” is freely available via Open Access, starting on 16 June 2026 in Genomic Psychiatry at the following hyperlink: https://doi.org/10.61373/gp026h.0045
An accompanying Editorial in Genomic Psychiatry titled “When the family tree outsmarts the diagnostic manual,” providing expert perspective on this research, is freely available via Open Access on 16 June 2026 in Genomic Psychiatry at the following hyperlink: https://doi.org/10.61373/gp026d.0048
The full reference for citation purposes is: Pato CN, Pato MT, Mulle J, Hart RP, Pang Z, Knowles JA, et al. Multiplex Portuguese families as a lens into rare mutations and the shared genetic architecture of schizophrenia, mood disorders, and autism spectrum disorders. Genomic Psychiatry 2026. DOI: https://doi.org/10.61373/gp026h.0045. Epub 2026 Jun 16.
About Genomic Psychiatry: Genomic Psychiatry: Advancing Science from Genes to Society (ISSN: 2997-2388, online and 2997-254X, print) represents a paradigm shift in genetics journals by interweaving advances in genomics and genetics with progress in all other areas of contemporary psychiatry. Genomic Psychiatry publishes peer-reviewed medical research articles of the highest quality from any area within the continuum that goes from genes and molecules to neuroscience, clinical psychiatry, and public health.
Affected individuals in Portuguese Island Collection families also segregates with severe autism spectrum disorder/intellectual disability.
Family Portuguese Island Collection (PIC)-9420.
Multiplex Portuguese families as a lens into rare mutations and the shared genetic architecture of schizophrenia, mood disorders, and autism spectrum disorders.
Multiplex Portuguese families as a lens into rare mutations and the shared genetic architecture of schizophrenia, mood disorders, and autism spectrum disorders
Article Publication Date
16-Jun-2026
Ru-based catalyst drives electrified lignin upgrading into high-value fuels
Dalian Institute of Chemical Physics, Chinese Academy Sciences
Researchers have developed an electricity-driven catalytic system that converts lignin, an abundant plant-based aromatic polymer, into valuable phenolic chemicals and fuel-related molecules with high efficiency. By combining a Ru@Bi/N-C catalyst with a HPW-HFIP electrolyte, the system directs active hydrogen toward useful reactions while suppressing hydrogen gas formation, offering a greener route for upgrading biomass into sustainable chemicals and aviation-fuel precursors.
Lignin is one of the most abundant renewable aromatic resources on Earth. As a major component of plant biomass, it contains rich benzene-ring structures that could be transformed into high-value chemicals and fuel molecules. However, lignin is also highly complex and difficult to break down efficiently because its structural units are connected by strong C-O and C-C bonds.
Electrocatalytic hydrogenation offers a promising way to upgrade lignin under mild conditions using electricity instead of high-pressure hydrogen gas. This approach is attractive because it can be coupled with renewable electricity and provides precise control over the reaction process. However, a major challenge remains: during electrochemical reactions, active hydrogen species are often consumed by the competing hydrogen evolution reaction, producing H2 gas rather than participating in lignin conversion. This lowers energy efficiency and limits product formation.
Recently, a research team led by Prof. Junming Xu from the Institute of Chemical Industry of Forest Products, Chinese Academy of Forestry, China developed an interface-engineered Ru@Bi/N-C catalyst coupled with a multifunctional HPW-HFIP electrolyte system for efficient electrocatalytic hydrogenation upgrading of lignin. The study reveals that the Bi-Ru interfacial structure and neighboring N-defect sites can precisely regulate active hydrogen migration, suppress the competing hydrogen evolution reaction, and promote selective cleavage of lignin linkages. This catalyst-electrolyte synergistic strategy enables highly efficient conversion of lignin model compounds into valuable aromatic monomers and fuel-related chemicals, providing a promising route for sustainable biomass valorization. The results were published in Chinese Journal of Catalysis (DOI:10.1016/S1872-2067(26)65005-X).
In this system, the Bi-Ru interface suppresses excessive hydrogen gas formation on Ru sites, while promoting the migration of active hydrogen toward nearby nitrogen-defect sites. These neighboring sites provide suitable adsorption strength for lignin model compounds, allowing them to undergo efficient bond cleavage and rapid product desorption. In simple terms, the catalyst helps active hydrogen choose the “right pathway”: reacting with lignin molecules rather than forming hydrogen gas.
The electrolyte also plays a crucial role. Phosphotungstic acid, abbreviated as HPW, acts as an electron and proton mediator. It can reversibly accept and release electrons, helping generate active hydrogen species on the suspended catalyst surface. Meanwhile, HFIP, a highly polar additive, promotes the activation of hydroxyl groups in lignin-derived molecules and lowers the energy barrier for C-O bond cleavage. Together, the HPW-HFIP electrolyte creates a favorable reaction microenvironment for efficient biomass upgrading.
Using 2-phenoxy-1-phenylethanol as a representative lignin model compound, the Ru@Bi/N-C catalyst achieved a conversion of 93.64% and a Faradaic efficiency of 91.92%. The reaction produced several valuable aromatic monomers, including phenol and phenylethanol derivatives. Further mechanistic studies using electrochemical measurements, in-situ Raman spectroscopy, hydrogen temperature-programmed desorption, and theoretical calculations confirmed that the high performance originates from the synergistic regulation of hydrogen migration, substrate adsorption, and electrolyte-assisted activation.
About the Journal
Chinese Journal of Catalysis is co-sponsored by Dalian Institute of Chemical Physics, Chinese Academy of Sciences and Chinese Chemical Society, and it is currently published by Elsevier group. This monthly journal publishes in English timely contributions of original and rigorously reviewed manuscripts covering all areas of catalysis. The journal publishes Reviews, Accounts, Communications, Articles, Highlights, Perspectives, and Viewpoints of highly scientific values that help understanding and defining of new concepts in both fundamental issues and practical applications of catalysis. Chinese Journal of Catalysis ranks among the top one journals in Applied Chemistry with a current SCI impact factor of 17.7. The Editors-in-Chief are Profs. Can Li and Tao Zhang.
Researchers at Osaka Metropolitan University have developed an artificial photosynthesis system capable of producing solar fuels more stably by integrating a self-regulating chemical component directly into the electrolyzer itself. The new device doesn’t rely on a battery-powered control method, removing an expensive component of such systems.
Similar to its natural version, artificial photosynthesis uses sunlight to convert water and carbon dioxide into useful fuels such as formic acid.
In artificial photosynthesis systems, the electrolyzer plays a central role by converting electricity generated by solar cells into chemical energy that can be stored as fuel in the form of formic acid.
To keep this energy conversion operating efficiently under changeable sunlight conditions, many systems use Maximum Power Point Tracking (MPPT), a control method that continuously adjusts the voltage and current to maximize the power output of the solar cells. However, MPPT systems typically rely on batteries or additional electronics to stabilize energy flow, increasing both the cost and complexity of the overall system.
A research group led by Associate Professor Yasuo Matsubara and Professor Yutaka Amao at the Research Center for Artificial Photosynthesis, Osaka Metropolitan University, in collaboration with Iida Group Holdings Co., Ltd, redesigned the system to incorporate a special solid electrolyte into the electrolyzer. In their new system, the electrolyzer itself performs the MPPT function automatically, eliminating the need for batteries.
Instead of using external electronics, batteries, and converters to keep the solar cell operating efficiently, the electrolyzer autonomously adjusts its own electrical behavior through its thermal and impedance properties.
“As sunlight increases, the electrolyzer naturally heats up. The system is designed so that this warming causes the electrical resistance to drop, allowing electricity to flow more freely,” Professor Amao explained. “This makes the system automatically adjust its electrical behavior.”
“This self-regulating behavior helps keep fuel production more stable throughout the day and automates the system, while reducing dependence on batteries and costly external components,” he added.
When the team tested a device incorporating the technology, it stably produced formic acid from water and CO2 under real sunlight conditions, even when light intensity fluctuated.
“We were confident that it would be successful, as we previously showcased this research at the ‘Joint Pavilion Iida Group × Osaka Metropolitan University’ exhibition as part of the Osaka Kansai Expo 2025,” Professor Matsubara said. “It successfully generated enough formic acid to power a miniature diorama in the pavilion, showing its potential as an efficient artificial photosynthesis system that could potentially be used to charge applications in our homes.”
The study was published in EES Solar.
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About OMU
Established in Osaka as one of the largest public universities in Japan, Osaka Metropolitan University is committed to shaping the future of society through “Convergence of Knowledge” and the promotion of world-class research. For more research news, visit https://www.omu.ac.jp/en/ and follow us on social media: X, Instagram, LinkedIn.
From paints and inks to catalysts and drug-delivery materials, many advanced technologies rely on substances dispersed in organic solvents. Yet directly observing these materials in their native liquid environments has remained a major challenge, limiting scientists' ability to understand how microscopic structures and elemental distributions influence performance. Researchers at Tohoku University have now overcome this barrier by extending cryo-electron transmission microscopy (cryo-TEM) to frozen methanol, opening a new avenue for studying materials under conditions much closer to their real-world operating environments.
Cryo-TEM is widely used to observe biological specimens in their native solution states and has recently been applied to non-biological materials dispersed in water. However, extending the technique to organic solvents has proven difficult because conventional sample-preparation methods were developed for aqueous systems. Rapid evaporation often causes organic solvent films to dry out or become too thick for observation, preventing the reproducible preparation of vitrified thin films suitable for cryo-TEM analysis.
To address this challenge, the research team developed a new sample-preparation technique called "gradient blotting." Rather than blotting the entire TEM grid with filter paper, the method contacts only half of the grid, creating a gradual thickness variation across the grid. This approach consistently produces regions with optimal film thicknesses of approximately 100-300 nanometers for cryo-TEM observation.
From paints and inks to catalysts and drug-delivery materials, many advanced technologies rely on substances dispersed in organic solvents. Yet directly observing these materials in their native liquid environments has remained a major challenge, limiting scientists' ability to understand how microscopic structures and elemental distributions influence performance. Researchers at Tohoku University have now overcome this barrier by extending cryo-electron transmission microscopy (cryo-TEM) to frozen methanol, opening a new avenue for studying materials under conditions much closer to their real-world operating environments.
Cryo-TEM is widely used to observe biological specimens in their native solution states and has recently been applied to non-biological materials dispersed in water. However, extending the technique to organic solvents has proven difficult because conventional sample-preparation methods were developed for aqueous systems. Rapid evaporation often causes organic solvent films to dry out or become too thick for observation, preventing the reproducible preparation of vitrified thin films suitable for cryo-TEM analysis.
To address this challenge, the research team developed a new sample-preparation technique called "gradient blotting." Rather than blotting the entire TEM grid with filter paper, the method contacts only half of the grid, creating a gradual thickness variation across the grid. This approach consistently produces regions with optimal film thicknesses of approximately 100-300 nanometers for cryo-TEM observation.
The achievement expands the applicability of cryo-TEM beyond water-based systems and provides a new analytical tool for investigating materials under realistic processing conditions. Because organic solvents play central roles in numerous industrial and functional materials, the method could support the development and quality evaluation of paints, inks, coatings, catalysts, and drug-delivery materials.
Details of the findings were published in the journal Microscopy on May 29, 2026.
Elemental mapping of mesoporous silica nanoparticles (MSNs) embedded in vitrified methanol thin films by cryo-TEM.
Relative to satellite retrievals, the key common biases of global kilometer-scale models in representing the convective and fine-scale precipitation characteristics of mesoscale convective systems.
Traditional global climate models were like early digital cameras — they had only about ten thousand pixels to cover the entire planet. At that low resolution, big storm systems looked like blurry blobs. You couldn't see their true shape, how long they lasted, or where they dumped the heaviest rain.
That created serious problems. Because those coarse models couldn't directly simulate thunderstorms, they had to rely on rough approximations, called “convective parameterization schemes” — and those often failed. They produced too much light drizzle, missed extreme downpours, got the timing of rain wrong, and completely failed to capture the large, organized clusters of thunderstorms known as mesoscale convective systems (MCSs). Those MCSs are exactly what cause most flash floods, damaging winds, and record-breaking rain events.
Now, next‑generation "kilometer‑scale" models have jumped to over 50 million pixels per global layer — roughly 2.8 km (about 1.7 miles) of resolution. That's sharp enough to see individual thunderstorm updrafts and rainbands directly, without guesswork.
With climate change driving extreme weather toward "more frequent, more severe," scientists urgently need to know: do these sharp new models actually get storms right?
A new study in Advances in Atmospheric Sciences puts six of the world's leading global kilometer‑scale models to the test, using East Asia's record‑breaking wet summer of 2020 as a real‑world exam. That summer broke rainfall records across Asia: 10 Chinese provinces flooded, Japan saw 1,000 mm in three days, and South Korea's rainy season lasted 54 days — well above its usual 32. The models include six global kilometer-scale models participating in the World Climate Research Programme (WCRP) Global KM-Scale Modeling Hackathon — ECMWF (IFS), the Max Planck Institute (ICON), the UK Met Office (UM), the U.S. Department of Energy (SCREAM), the University of Tokyo (NICAM), and the Chinese Academy of Sciences (CAS-ESM) .
The international research team, led by the Chinese Academy of Meteorological Sciences (CAMS), Beijing Normal University, ETH Zurich, and the CAS Institute of Atmospheric Physics, compared model results against satellite observations.
“The good news: these models mostly get the big picture right — where MCS rain falls, how long storms last, how fast they move, and their daily timing. ” said Xiaotong Huang, first author and M.Sc. candidate at CAMS.
The models successfully reproduced the overall spatial distribution of MCS precipitation during the extreme 2020 summer. They also captured fine‑scale details including system duration, propagation speed, areal extent, rainfall intensity, and the daily cycle of storm activity.
Despite their power, the models shared the same biases. “They produce too many MCSs, which are too short-lived, too small in area, and too intense in rainfall rate.” said Dr. Puxi Li, corresponding author of the study.
Specifically, relative to satellite observations:
Too many MCSs — with the excess being predominantly short‑lived systems
Too short — simulated storms don't last as long as real ones
Too small — the rain area is systematically underestimated
Too strong — within the narrow core, deep convection and rainfall rates are too intense
These shared biases provide critical clues for improving the next generation of global storm‑resolving models.
The urgency is not academic. In late May 2026, an extreme rainfall event struck the middle and lower Yangtze River basin in eastern China, prompting China's Ministry of Water Resources and the China Meteorological Administration to jointly issue the first national‑level Red Alert for torrential rain and flash floods of the year.
A previous study by the same research group found that MCS‑associated rainfall has become more frequent and intense, and contribute more than 75% to the total precipitation increase over the East Asian summer monsoon rainband in the past two decades — a trend directly linked to a warming climate.
Kilometer-scale Earth system modeling is crossing a historic milestone. Under major European initiatives — nextGEMS, WarmWorld, and Destination Earth — models such as ICON and IFS have already successfully completed multi-decadal continuous integrations. These frontier achievements will be discussed in depth at the upcoming KM-scale Global Modelling Summit 2026 in Hamburg, Germany. Looking ahead over the next three to five years, the international research community must continue concerted efforts to refine cloud microphysical processes, boundary-layer turbulent mixing, and high-resolution atmosphere–ocean–land coupling.
According to the authors, their goal is straightforward: get the right process of high-impact weather in the right place, at the right time — and turn these 50‑megapixel simulations into real help for disaster preparedness and climate adaptation.
