Hicks SD, et al. Validation of a salivary RNA test for childhood autism spectrum disorder. Frontiers in Genetics. 2018 Validation of a Salivary RNA Test for Childhood Autism Spectrum Disorder

The authors hypothesized that a saliva-based poly-“omic” RNA panel could objectively distinguish children with ASD from their neurotypical peers and children with non-ASD developmental delay. Pooled saliva was collected by applying the highly absorbent ORAcollect™●RNA device at two sites.

The authors have developed an objective, quantitative algorithm based on salivary RNA abundance. This non-invasive test could augment the accuracy of current ASD assessment, as an adjunctive tool for children with positive MCHAT screening, or an objective aid in ASD diagnosis.

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Hicks SD, et al. Refinement of saliva microRNA biomarkers for sports-related concussion. Journal of Sport and Health Science. 2023

The authors aimed to refine a miRNA-based tool capable of identifying athletes with SRC without the confounding effects of exercise. Saliva was collected from participants using the ORAcollect™●RNA device. This study contributes to growing evidence regarding salivary miRNAs as potential concussion biomarkers. The salivary miRNAs unaffected by exercise represent promising biomarker candidates for SRC.

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Francis DI, et al. Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. European Journal of Human Genetics. 2022; DOI: 10.1038/s41431-022-01232-5.

The study by Francis et al. (2022) selected patients who underwent CMA testing of both blood (n = 23,289) and saliva (n = 21,857) samples. The researchers aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs).

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Fitzsimons, E et al. Collection of genetic data at scale for a nationally representative population: the UK Millennium Cohort Study. Longitudinal and Life Course Studies, Volume 13, Number 1, January 2022, pp. 169-187(19)

The Millennium Cohort Study (MCS) is a diverse and representative birth cohort study of UK children born at the turn of the millennium. Data has been collected at seven time periods, spanning from infant to 17 years old with DNA samples from saliva collected at age 14. Due to the scale of the study, cost and logistic were important to consider, along with participant compliance rates over time.

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Hicks SD, et al. Diagnosing mild traumatic brain injury using saliva RNA compared to cognitive and balance testing. Clinical and Translational Medicine. 2020; 10:e197.

In a case-control study by Hicks et al. (2020), 251 participants with mild traumatic brain injury (mTBI) (≤14 days postinjury) were enrolled from 11 clinical sites. Saliva samples (n = 679) were collected at five time points (≤3, 4-7, 8-14, 15-30, and 31-60 days post-mTBI). Levels of various non-coding RNA (ncRNAs) (e.g., microRNA, small nucleolar RNA, and piwi-interacting RNA) were quantified within each sample using RNA sequencing.

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Atkins, Rahshida, et al. "Eliciting Willingness and Beliefs towards Participation in Genetic Psychiatric Testing in Black/African American Mothers at Risk for Depression." Behavioral Sciences 10.12 (2020): 181.

One study led by Dr. Atkins, investigated willingness to participate in genetic testing, specifically focused on Black/African American women at risk for depression. This study asked open-ended questions to solicit information on their beliefs, while providing information on saliva collection and DNA testing. As a result, 89.5% of the participants were willing to participate in salivary testing, though noted factors that could lower compliance rate including study knowledge, convenience of sample collection, or financial constraints. These conclusions indicate that saliva collection is an accepted form of genetic testing and study design must focus on reducing these barriers to ensure strong participation.

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Avgan N, et al. BDNF Variants May Modulate Long-Term Visual Memory Performance in a Healthy Cohort. International Journal of Molecular Sciences. 2017; 18(3):655.

Dr. Avgan’s group used saliva samples from Oragene•DNA^TM collection kits, to assess genetic variants in learning and memory studies. Using DNA extracted from saliva to investigate brain-derived neurotrophic factor (BDNF), they identified 10 variants nominally associated with immediate visual memory and 3 variants significantly associated with long-term visual memory. This led to their conclusion that BDNF has a potential role in the genetics of memory.

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