9 results on '"Fernandez, Shane"'
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2. Polygenic scores for Alzheimer's disease risk and resilience predict age at onset of amyloid‐β.
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O'Brien, Eleanor K., Porter, Tenielle, Fernandez, Shane, Cox, Timothy, Dore, Vincent, Bourgeat, Pierrick, Goudey, Benjamin, Doecke, James D., Masters, Colin L., Rowe, Christopher C., Villemagne, Victor L, Cruchaga, Carlos, Saykin, Andrew J., and Laws, Simon M
- Abstract
Background: Genome‐wide association studies (GWAS) have identified numerous genetic variants associated with Alzheimer's disease (AD) risk, but genetic variation in the onset and progression of AD pathology is less understood. Accumulation of amyloid‐β (Aβ) in the brain is a key pathological hallmark of AD beginning 10 – 20 years prior to cognitive symptoms. We investigated the genetic basis of variation in age at onset (AAO) of brain Aβ by comparing the performance of polygenic scores (PGSs) based on AD risk and resilience with a Aβ‐AAO trait‐specific PGS. Method: 1122 participants from the Alzheimer's Dementia Onset and Progression in International Cohorts (ADOPIC) study underwent genome‐wide SNP genotyping and assessment of brain Aβ using positron emission tomography (PET) imaging at two or more timepoints. AAO was the age at which participants were estimated to have crossed the 20 centiloid (CL) threshold for high Aβ. We utilised AD risk and resilience GWAS summary statistics and conducted a GWAS for AAO using a cross‐validation approach (10 test‐validation folds). We used PRSice to identify optimal PGSs for Aβ‐AAO for risk (PGSRisk), resilience (PGSResilience) and Aβ‐AAO (PGSAAO). Result: PGSRisk and PGSResilience were both significantly associated with Aβ‐AAO, such that higher PGSRisk and lower PGSResilience were associated with an earlier Aβ‐AAO. PGSRisk showed the strongest association and explained more variance in Aβ‐AAO than did PGSAAO. When stratified by APOE ε4 carriage, the strongest genetic risk factor for AD, the association of PGSRisk with Aβ‐AAO was stronger among ε4 non‐carriers, whilst PGSResilience, was more strongly associated with Aβ‐AAO in ε4 carriers. Conclusion: PGS based on genetic risk and resilience for AD are both significant predictors of the age at which people are estimated to cross the threshold for high brain Aβ burden. Predicting the age at which a person will pass this threshold would enable treatment at an earlier stage, when it may more effectively delay or prevent symptom onset. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
3. GENDER DIFFERENCES IN THE PERCEPTIONS OF SPORT COACHING STANDARDS AMONG MALAYSIAN SPORT COACHES
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Wee, Eng Hoe, primary, Fernandez, Shane Delwin, additional, Cheng, Wei Fong, additional, and Ler, Hui Yin, additional
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- 2022
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4. Tools for harmonization of data in World‐Wide FINGERS
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Talton, Jennifer W, primary, Fernandez, Shane, additional, Garcia, Katelyn R, additional, Crivelli, Lucia, additional, Snyder, Heather M, additional, Lovato, Laura, additional, Martins, Ralph N, additional, Kivipelto, Miia, additional, Mangialasche, Francesca, additional, Pérez, Kristal Morales, additional, and Espeland, Mark A, additional
- Published
- 2021
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5. SPON1 is associated with amyloid-β and APOE ϵ4-related cognitive decline in cognitively normal adults
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Fernandez, Shane, Burnham, Samantha C., Milicic, Lidija, Savage, Greg, Maruff, Paul, Peretti, Madeline, Sohrabi, Hamid R., Lim, Yen Ying, Weinborn, Michael, Ames, David, Masters, Colin L., Martins, Ralph N., Rainey-Smith, Stephanie, Rowe, Christopher C., Salvado, Olivier, Groth, David, Verdile, Giuseppe, Villemagne, Victor L., Porter, Tenielle, Laws, Simon M., Fernandez, Shane, Burnham, Samantha C., Milicic, Lidija, Savage, Greg, Maruff, Paul, Peretti, Madeline, Sohrabi, Hamid R., Lim, Yen Ying, Weinborn, Michael, Ames, David, Masters, Colin L., Martins, Ralph N., Rainey-Smith, Stephanie, Rowe, Christopher C., Salvado, Olivier, Groth, David, Verdile, Giuseppe, Villemagne, Victor L., Porter, Tenielle, and Laws, Simon M.
- Abstract
Background: Genetic variation in Spondin-1, specifically rs11023139, has been associated with reduced rates of cognitive decline in individuals with Alzheimer's disease. Objective: The aim of this study was to assess whether the association was present in cognitively normal older adults. Methods: Longitudinal cognitive decline was investigated using linear mixed modelling in a cohort of 590 cognitively normal older adults enrolled in the Australian Imaging, Biomarkers and Lifestyle Study. Results: No independent effect of Spondin-1 rs11023139 on cognitive decline was observed. However, significant associations were observed for the interaction between Apolipoprotein E (APOE) ϵ4 and rs11023139 in individuals with high amyloid-β burden. APOE ϵ4/rs11023139-A carriers declined significantly faster than APOE ϵ4/rs11023139-G-G carriers in measures of global cognition (p=0.011) and verbal episodic memory (p=0.020). Conclusion: These results suggest that carriage of the Spondin-1 rs11023139-A allele significantly contributes to a worsening of cognitive performance in APOE ϵ4 cognitively normal older adults with a high neocortical amyloid-β burden.
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- 2021
6. SPON1 Is Associated with Amyloid-β and APOE ε4-Related Cognitive Decline in Cognitively Normal Adults
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Fernandez, Shane, primary, Burnham, Samantha C., additional, Milicic, Lidija, additional, Savage, Greg, additional, Maruff, Paul, additional, Peretti, Madeline, additional, Sohrabi, Hamid R., additional, Lim, Yen Ying, additional, Weinborn, Michael, additional, Ames, David, additional, Masters, Colin L., additional, Martins, Ralph N., additional, Rainey-Smith, Stephanie, additional, Rowe, Christopher C., additional, Salvado, Olivier, additional, Groth, David, additional, Verdile, Giuseppe, additional, Villemagne, Victor L., additional, Porter, Tenielle, additional, and Laws, Simon M., additional
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- 2021
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7. SPON1Is Associated with Amyloid-ß and APOEe4-Related Cognitive Decline in Cognitively Normal Adults
- Author
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Fernandez, Shane, Burnham, Samantha C., Milicic, Lidija, Savage, Greg, Maruff, Paul, Peretti, Madeline, Sohrabi, Hamid R., Lim, Yen Ying, Weinborn, Michael, Ames, David, Masters, Colin L., Martins, Ralph N., Rainey-Smith, Stephanie, Rowe, Christopher C., Salvado, Olivier, Groth, David, Verdile, Giuseppe, Villemagne, Victor L., Porter, Tenielle, and Laws, Simon M.
- Abstract
Abstract.Background: Genetic variation in Spondin-1, specifically rs11023139, has been associated with reduced rates of cognitive decline in individuals with Alzheimer’s disease.Objective: The aim of this study was to assess whether the association was present in cognitively normal older adults.Methods: Longitudinal cognitive decline was investigated using linear mixed modelling in a cohort of 590 cognitively normal older adults enrolled in the Australian Imaging, Biomarkers and Lifestyle Study.Results: No independent effect of Spondin-1 rs11023139 on cognitive decline was observed. However, significant associations were observed for the interaction between Apolipoprotein E (APOE)?4 and rs11023139 in individuals with high amyloid-ß burden. APOE?4/rs11023139-A carriers declined significantly faster than APOE?4/rs11023139-G_G carriers in measures of global cognition (p?=?0.011) and verbal episodic memory (p?=?0.020).Conclusion: These results suggest that carriage of the Spondin-1 rs11023139-A allele significantly contributes to a worsening of cognitive performance in APOE?4 cognitively normal older adults with a high neocortical amyloid-ß burden.
- Published
- 2021
- Full Text
- View/download PDF
8. High content, multi-parameter analyses in buccal cells to identify Alzheimer's Disease
- Author
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François, Maxime, Fenech, Michael F., Thomas, Philip, Hor, Maryam, Savage, Greg, Martins, Ralph N., Rainey-Smith, Stephanie R., Masters, Colin L., Ames, David, Rowe, Christopher C., Macaulay, Stuart Lance, Hill, Andrew F., Leifert, Wayne R., Appannah, Arti, Barnes, Margaret, Barnham, K. J., Bedo, Justin, Bellingham, Shayne, Bon, Lynette, Bourgeat, Pierrick, Brown, Belinda M., Buckley, Rachel F., Burnham, Samantha, Bush, Ashley I., Chandler, Graeme, Chen, Karren, Clarnette, Roger, Collins, Steven, Cooke, Ian, Cowie, Tiffany, Cox, Kay L., Cuningham, Emily, Cyarto, Elizabeth V., Dang, Phuong Anh Vu, Darby, David, Desmond, Patricia, Doecke, James D., Dore, Vincent, Downing, Harriet, Dridan, Belinda, Duesing, Konsta, Fahey, Michael, Farrow, Maree, Faux, Noel G., Fernandez, Shane, Fernando, Binosha, Fowler, Chris, Fripp, Jurgen, Frost, Shaun, Gardener, Samantha, Gibson, Simon, Gardener, Samantha L., Gupta, Veer, Graham, Paula, Gupta, Veer Bala Ala, Hone, Eugene, Horne, Malcolm, Huckstepp, Brenda, Jones, Andrew, Jones, Gareth, Kamer, Adrian, Kanagasingam, Yogesan, Keam, Lisa, Kowalczyk, Adam, Krivdic, Betty, Lam, Chiou Peng, Lamb, Fiona, Lautenschlager, Nicola, Laws, Simon, Leroux, Hugo, Lautenschlager, Nicola T., Laws, Simon M., Lim, Florence, Lim, Lucy, Lockett, Linda, Lucas, Kathy, Mano, Mark, Marczak, Caroline, Martins, Georgia, Maruff, Paul, Matsumoto, Yumiko, Bird, Sabine, McBride, Simon J., and Szoeke, Cassandra
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mild cognitive impairment ,DNA content ,neutral lipids ,amyloid ,Alzheimer's disease ,laser scanning cytometry ,buccal cells - Abstract
Alzheimer’s disease (AD) is a degenerative brain disorder and is the most common form of dementia. Minimally invasive approaches are required that combine biomarkers to identify individuals who are at risk of developing mild cognitive impairment (MCI) and AD, to appropriately target clinical trials for therapeutic discovery as well as lifestyle strategies aimed at prevention. Buccal mucosa cells from the Australian Imaging, Biomarkers and Lifestyle Flagship Study of Ageing cohort (n=60) were investigated for cytological markers that could be used to identify both MCI and AD individuals. Visual scoring of the buccal cytome demonstrated a significantly lower frequency of basal and karyorrhectic cells in the MCI group compared with controls. A high content, automated assay was developed using laser scanning cytometry to simultaneously measure cell types, nuclear DNA content and aneuploidy, neutral lipid content, putative Tau and amyloid-β (Aβ) in buccal cells. DNA content, aneuploidy, neutral lipids and Tau were similar in all groups. However, there was significantly lower Tau protein in both basal and karyolytic buccal cell types compared with differentiated buccal cells. Aβ, as measured by frequency of cells containing Aβ signal, as well as area and integral of Aβ signal, was significantly higher in the AD group compared with the control group. Buccal cell Aβ was correlated with mini-mental state examination (MMSE) scores (r = -0.436, P=0.001) and several blood-based biomarkers. Combining newly identified biomarkers from buccal cells with those already established may offer a potential route for more specific biomarker panels which may substantially increase the likelihood of better predictive markers for earlier diagnosis of AD.
- Published
- 2016
9. Armchair Traveler.
- Author
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Phillips, Darshan and Fernandez, Shane
- Subjects
PEN drawing - Abstract
Presents the ink drawing "Armchair Traveler," by Darshan Phillips and Shane Fernandez.
- Published
- 2008
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