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Unlock the Hidden Genes of Autism: What Every Practitioner Needs to Know!

Unlock the Hidden Genes of Autism: What Every Practitioner Needs to Know!

Introduction

Autism Spectrum Disorder (ASD) is a complex condition with a highly heritable nature, yet its genetic underpinnings remain largely elusive. Recent research, however, has made significant strides in identifying candidate genes that may contribute to ASD. A novel study titled A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder offers groundbreaking insights that could transform how practitioners understand and approach ASD.

The Research Breakthrough

The study utilizes a strategy called homozygous haplotype (HH) mapping to detect shared genetic segments among individuals with ASD. By analyzing data from 1,402 Autism Genome Project trios, researchers identified 25 known and 1,218 novel candidate genes. This approach highlights the potential of HH mapping in identifying low-frequency recessive variants that contribute to ASD, offering a fresh perspective on the genetic architecture of this disorder.

Implications for Practitioners

For practitioners, understanding these genetic insights can enhance the effectiveness of interventions and therapies. Here are some practical ways to integrate these findings into your practice:

Encouraging Further Research

While this study offers significant insights, it also opens the door for further research. Practitioners are encouraged to engage in or support research initiatives that explore the genetic basis of ASD. This could involve participating in studies, collaborating with research institutions, or even conducting small-scale research within your practice.

Conclusion

The identification of novel candidate genes in ASD is a promising development that can enhance our understanding and treatment of the disorder. By integrating these insights into practice, practitioners can offer more personalized and effective support to individuals with ASD and their families.

To read the original research paper, please follow this link: A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.


Citation: Casey, J. P., Magalhaes, T., Conroy, J. M., Regan, R., Shah, N., Anney, R., Shields, D. C., Abrahams, B. S., Almeida, J., Bacchelli, E., Bailey, A. J., Baird, G., Battaglia, A., Berney, T., Bolshakova, N., Bolton, P. F., Bourgeron, T., Brennan, S., Cali, P., Correia, C., Corsello, C., Coutanche, M., Dawson, G., de Jonge, M., Delorme, R., Duketis, E., Duque, F., Estes, A., Farrar, P., Fernandez, B. A., Folstein, S. E., Foley, S., Fombonne, E., Freitag, C. M., Gilbert, J., Gillberg, C., Glessner, J. T., Green, J., Guter, S. J., Hakonarson, H., Holt, R., Hughes, G., Hus, V., Igliozzi, R., Kim, C., Klauck, S. M., Kolevzon, A., Lamb, J. A., Leboyer, M., Le Couteur, A., Leventhal, B. L., Lord, C., Lund, S. C., Maestrini, E., Mantoulan, C., Marshall, C. R., McConachie, H., McDougle, C. J., McGrath, J., McMahon, W. M., Merikangas, A., Miller, J., Minopoli, F., Mirza, G. K., Munson, J., Nelson, S. F., Nygren, G., Oliveira, G., Pagnamenta, A. T., Papanikolaou, K., Parr, J. R., Parrini, B., Pickles, A., Pinto, D., Piven, J., Posey, D. J., Poustka, A., Poustka, F., Ragoussis, J., Roge, B., Rutter, M. L., Sequeira, A. F., Soorya, L., Sousa, I., Sykes, N., Stoppioni, V., Tancredi, R., Tauber, M., Thompson, A. P., Thomson, S., Tsiantis, J., Van Engeland, H., Vincent, J. B., Volkmar, F., Vorstman, J. A. S., Wallace, S., Wang, K., Wassink, T. H., White, K., Wing, K., Wittemeyer, K., Yaspan, B. L., Zwaigenbaum, L., Betancur, C., Buxbaum, J. D., Cantor, R. M., Cook, E. H., Coon, H., Cuccaro, M. L., Geschwind, D. H., Haines, J. L., Hallmayer, J., Monaco, A. P., Nurnberger, J. I. Jr., Pericak-Vance, M. A., Schellenberg, G. D., Scherer, S. W., Sutcliffe, J. S., Szatmari, P., Vieland, V. J., Wijsman, E. M., Green, A., Gill, M., Gallagher, L., Vicente, A., & Ennis, S. (2012). A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Human Genetics, 131(4), 565-579. https://doi.org/10.1007/s00439-011-1094-6
Marnee Brick, President, TinyEYE Therapy Services

Author's Note: Marnee Brick, TinyEYE President, and her team collaborate to create our blogs. They share their insights and expertise in the field of Speech-Language Pathology, Online Therapy Services and Academic Research.

Connect with Marnee on LinkedIn to stay updated on the latest in Speech-Language Pathology and Online Therapy Services.

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