BlinkLab has entered into a new partnership with the US-based SHANK2 foundation.
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Autism diagnostic specialist BlinkLab (ASX: BB1) has entered into a new partnership with the US-based SHANK2 foundation.

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The focus will be on advocacy, awareness, the creation of research infrastructure, as well as data collection and assistance with phenotyping studies on SHANK2-related neurodevelopmental disorders.

The SHANK2 gene plays a critical role in how brain cells form and maintain synaptic connections involved in learning, memory and behaviour.

Mutations in SHANK2 disrupt these neural signalling pathways and are strongly associated with autism and other neurodevelopmental disorders, often leading to developmental delays, communication difficulties and sensory processing challenges.

Because SHANK2-related disorders arise from a well-defined genetic cause, they provide an important model for studying the biological basis of autism and related conditions like cognitive impairment, developmental delay and epilepsy.

MD and CEO, Dr Henk-Jan Boele, said the collaboration with the SHANK2 Foundation supports BlinkLab’s strategy to expand its digital neurodiagnostic platform into genetically defined neurodevelopmental disorders and rare disease research.

“Genetically defined conditions provide well-characterised patient populations that can strengthen digital biomarker validation and support the development of more precise digital phenotyping approaches,” he noted.

BlinkLab is developing a smartphone-based diagnostic platform for autism. Its most advanced product, BlinkLab Dx 1, is an autism diagnostic aid for clinicians that leverages smartphones, artificial intelligence, and machine learning to capture objective, reflex-based measures, supporting earlier and more accurate autism identification.

Dr Henk-Jan Boele said the collaboration with the SHANK2 foundation provides access to genetically confirmed patient populations.

“It’s a great honour to work with Ben Hutz and the SHANK2 foundation. The first children have already been successfully tested, and we are deeply grateful to the SHANK2 children and families worldwide participating in this important study.

“In the autism field, it is essential to work with well-defined patient groups, since establishing ground truth in autism research can be challenging due to misdiagnosis, heterogeneous populations, and diagnostic uncertainty.

“This collaboration provides important external validation of the usefulness of our smartphone-based neurometric assessments. In collaboration with the SCANNER consortium, and through my role as Assistant Professor at Erasmus MC, we will also test mouse models carrying the exact same SHANK2 mutation to evaluate treatment effectiveness.”

SHANK2-related disorders are genetically defined, creating a biologically characterised cohort that can be used to evaluate BlinkLab’s digital behavioural biomarkers.

BB1 is up 4.14% to 88.0¢. Mkt cap $106.3M.

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The material provided in this article is for information only and should not be treated as investment advice. Viewers are encouraged to conduct their own research and consult with a certified financial advisor before making any investment decisions. For full disclaimer information, please click here.

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