Newswise — Genetic markers for autism, hiding in plain sight

Structural variants may hold key to autism heritability

An Oak Ridge National Laboratory-led research team discovered genetic mutations that underlie autism using a new approach that could lead to better diagnostics and drug therapies.

Scientists estimate 80% of autism is inherited, but they have yet to identify causative genes.

“We realized the value of unexplored heritable information from others’ research,” said ORNL’s Michael Garvin. Garvin and colleagues focused on genomic mutations called structural variants and established a direct link to autism traits.

The key was observing that many structural variants are excluded because they often display nontraditional inheritance patterns. By focusing on these variants, ORNL scientists found a mutation in the ACMSD gene that is associated with nonverbal types of autism. They then used artificial intelligence and high-performance computing to find additional variants related to three autism subtypes.

“We’ve established a workflow for using this often-ignored data that can be applied not only to autism, but also to other disorders,” said ORNL’s David Kainer. — Stephanie Seay


Recyclable composites help drive net-zero goal

Circular carbon-fiber composite manufacturing boosted

Oak Ridge National Laboratory scientists designed a recyclable polymer for carbon-fiber composites to enable circular manufacturing of parts that boost energy efficiency in automotive, wind power and aerospace applications.

Carbon-fiber composites, or fiber-reinforced polymers, are strong, lightweight materials that can help lower fuel consumption and reduce emissions in critical areas such as transportation. However, unlike metal competitors, carbon-fiber composites are not typically recyclable, meaning wider adoption could present waste challenges.

“Our goal is to extend the lifecycle of these materials by making reuse possible without sacrificing performance,” said ORNL’s Md Anisur Rahman.

The team’s approach incorporates dynamic covalent bonds that are reversible, enabling both carbon fiber and polymer recycling. The new polymer maintained mechanical strength in six reprocessing cycles, a sharp contrast to previously reported polymers.

“ORNL’s carbon-fiber composites enable fast processing and can be repaired or reprocessed multiple times, opening pathways to circular, low-carbon manufacturing,” said ORNL’s Tomonori Saito.


Evaluating buildings in real time

Tool gives instant, precise onsite measurements for prefab panel installation

Researchers at Oak Ridge National Laboratory have developed a tool that provides accurate measurements and positioning directions to those installing energy-efficient panels over existing building exteriors. This method will decrease installation time and cost by more than 25%.

One approach to upgrade aging buildings is to increase thermal performance and lower carbon emissions by fitting prefabricated insulated panels over the envelope – any part of a structure that separates the building’s internal and external environment.

ORNL researchers created algorithms to compare panel location during installation with a digital twin or virtual model. The twin, generated in minutes using a 3D scanner, provides one-eighth of an inch accuracy. An autonomous robotic tracker then generates real-time positioning data for installers to minimize errors and expedite installation.

“This tool gives instant feedback at the jobsite on how to adjust the position and panel orientation to enable airtight and watertight envelopes,” said ORNL’s Diana Hun. “It’s beneficial for new construction, too.”


Nanoreactor grows hydrogen-storage crystals

Hydrogen clathrates store hydrogen at lower pressures, moderate temperatures

Neutron scattering techniques were used as part of a study of a novel nano-reactor material that grows 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 within natural sediments.

The nanoreactor material consists 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 HC formation. They found that nearly 100% of the water converted into HCs in just minutes — at a 30% lower pressure than required in conventional HC production.

“The ability to store hydrogen at lower pressures and higher temperatures is a step toward potentially using these crystalline hydrates for hydrogen storage in stationary and mobile applications,” said UA’s Joaquin Silvestre-Albero.

Journal Link: Human Genetics and Genomics Advances Journal Link: Cell Reports Physical Science Journal Link: Nature Communications