Newswise – Genetic markers of autism, hidden in plain sight
Structural variants may be key to heritability of autism
A research team led by Oak Ridge National Laboratory has discovered genetic mutations that underlie autism using a new approach that could lead to better diagnostics and drug therapies.
Scientists estimate that 80% of autism is hereditary, but they haven’t yet identified the genes responsible.
“We’ve realized the value of unexplored hereditary information from other people’s research,” said ORNL’s Michael Garvin. Garvin and his colleagues focused on genomic mutations called structural variants and drew a direct link to autism traits.
The key was to observe that many structural variants are excluded because they often display non-traditional inheritance patterns. Focusing on these variants, ORNL scientists discovered a mutation in the ACMSD gene associated with non-verbal autism types. They then used artificial intelligence and high-performance computing to find additional variants linked to three autism subtypes.
“We’ve established a workflow for using this often overlooked data that can be applied not only to autism, but to other disorders as well,” said David Kainer of ORNL. — Stephanie Seay
Recyclable composites help achieve net zero
The manufacture of circular boosted carbon fiber composites
Oak Ridge National Laboratory scientists have designed a recyclable polymer for carbon fiber composites to enable circular manufacturing of parts that improve energy efficiency in automotive, wind and aerospace applications.
Carbon fiber composites, or fiber-reinforced polymers, are strong, lightweight materials that can help reduce fuel consumption and emissions in critical areas such as transportation. However, unlike metal competitors, carbon fiber composites are generally not recyclable, meaning wider adoption could present waste issues.
“Our goal is to extend the life cycle of these materials by making reuse possible without sacrificing performance,” said Md Anisur Rahman of ORNL.
The team’s approach incorporates dynamic covalent bonds that are reversible, allowing both carbon fiber and polymer recycling. The new polymer maintained its mechanical strength over six reprocessing cycles, a stark contrast to previously reported polymers.
“ORNL’s carbon fiber composites allow for rapid processing and can be repaired or reprocessed multiple times, paving the way for low-carbon, circular manufacturing,” said Tomonori Saito of ORNL.
Real-time building assessment
Tool gives instant and accurate on-site measurements for pre-cast panel installation
Researchers at Oak Ridge National Laboratory have developed a tool that provides precise measurements and positioning directions to those installing energy-efficient panels on the exterior of existing buildings. This method will reduce installation time and cost by more than 25%.
One approach to retrofitting aging buildings is to increase thermal performance and reduce carbon emissions by installing pre-engineered insulated panels over the envelope – any part of a structure that separates the internal and external environment of the building.
ORNL researchers created algorithms to compare the panel’s location during installation with a digital twin or virtual model. The twin, generated in minutes using a 3D scanner, provides an accuracy of one-eighth of an inch. An autonomous robotic tracker then generates real-time positioning data for installers to minimize errors and speed installation.
“This tool gives instant feedback to the jobsite on how to adjust the position and orientation of panels to allow for airtight and watertight envelopes,” said ORNL’s Diana Hun. “It’s also beneficial for new builds.”
A nanoreactor produces hydrogen storage crystals
Hydrogen clathrates store hydrogen at lower pressures and moderate temperatures
Neutron scattering techniques have been used in a study of a new nano-reactor material that produces crystalline hydrogen clathrates, or HCs, capable of storing hydrogen. The researchers, from ORNL and the University of Alicante, or UA, in Spain, were inspired by nature, where methane hydrates grow in the pores and voids of natural sediments.
The nanoreactor material is made of a chemically optimized porous activated carbon that can confine hydrogen at the nanoscale with thermal stability as high as -27.7 degrees Fahrenheit. The team used pure liquid water to promote the formation of HC. They found that almost 100% of the water converted to HC in just a few minutes, at a pressure 30% lower than that required in conventional HC production.
“The ability to store hydrogen at lower pressures and higher temperatures is a step towards the potential use of these crystalline hydrates for hydrogen storage in stationary and mobile applications,” said Joaquin Silvestre. -Albero of UA.
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