• ICCONS, Kavalappara, Shoranur, Palakkad-679523, Kerala (0466) 2224869
  • ICCONS, Pulayanarkotta, Thuruvikkal PO, Trivadrum - 695011, Kerala (0471) 6066061
  • icconssrr@gmail.com

Neurogenetics Department

Department of Neurogenetics has a high throughput Genetics Lab equipped with state-of-the-art facilities such as DNA sequencer (Applied Biosystems 3500 Dx Genetic Analyzer) and next generation sequencer (Ion Torrent Personal Genome Machine).

A research advisory committee comprising of experts from diverse fields including, Human Genetics, Child Psychiatry, Neurology and Neuroimaging guides and co-ordinates the research activities of Neurogenetics Department.

1. Genetics of Autism Spectrum Disorders in the Indian population

The main objective of the study is to elucidate the genetic underpinnings of autism spectrum disorders in the Indian population. During the last decade, scientists from all over the world have worked together to trace autism candidate genes. Data has been collected from thousands of autistic families from different populations across the world. Most of these studies have been carried out in United States and Europe, with limited participation from Asian countries. Consequently, the huge dataset generated so far has been predominantly of Caucasian samples. In the case of a highly heterogeneous disorder like autism, the genetic predisposing factors might be race- or population-specific, warranting the need to study previously unexplored populations. However, there have been very few genetic studies on autism in India. Even though there are a few reports focusing on single genes, it has not been very productive. A comprehensive study involving multiple genes is required to identify the genes involved in the pathogenesis of this complex, often debilitating disorder. Unfortunately, such studies have not been carried out in India until now.

At ICCONS Shoranur, we have a registry of 2,000 clinically and behaviourally evaluated database of ASD patients from different states of India (mainly Kerala). These samples can provide valuable information on genetic and environmental factors leading to autism in Indian population.

2. Mutation screening of candidate genes involved in genetic syndromic form of autism

Several genetic syndrome comorbid with autism (e.g. Rett, Prader-Willi, Angelman, Fragile-X) are caused by mutations or abnormalities in single genes or chromosomal regions. We aim at resequencing the exonic regions of these genes in an effort to identify novel or rare variants in the Indian population.

3. Cytogenetic abnormalities in autism spectrum disorders

Several syndromic forms of autism and other related abnormalities can be diagnosed by cytogenetic tests. Our objective is to identify such cytogenetic abnormalities through Karyotyping. Kryaotyping yields valuable information that can be used in genetic counselling and patient management.

4. Epigenetics

DNA methylation: DNA methylation, the most frequently investigated epigenetic factor, plays a crucial role during embryogenesis, and has been found to regulate transcriptional plasticity in the developing brain. DNA methylation changes during brain development have been found to be highly dynamic, and could provide clues to the pathogenesis of neurodevelopmental disorders. Even though several studies have been carried out to identify the candidate genes of speech and language disorders, relatively few studies examined the epigenetic aspects. We aim to analyze the DNA methylation pattern of genes potentially involved in the pathogenesis of neurological disorders..

MicroRNAs: Recent evidence has demonstrated that telomere length in peripheral blood leukocytes is associated with increased risk of certain neuropsychiatric disorders including schizophrenia, autism, mood disorders and anxiety disorders. Interestingly, it has been shown that telomerase and shelterin complex having many potential target sites for microRNAs (miRNAs.) Genome instability driven by telomere shortening dramatically alters the pattern of miRNA expression in cells. Conversely, telomere shortening may change the miRNA expression pattern in cells. Therefore, miRNA expression and telomere length may be correlates. Alterations in telomere length and aberrant expression of miRNAs have been reported in autism. Therefore, it would be interesting to look into the association between telomere length, miRNA expression and autism.

Applied Biosystems 3500 Dx Genetic Analyzer: The 8-capillary 3500 Dx Genetic Analyzer can be used for traditional DNA sequencing and DNA fragment analysis applications (e.g. SNP analysis, mutation detection, microsatellite analysis).

Services include, DNA Sequencing and Fragment Analysis. We offer support services and training in DNA sequencing and genotyping to academic, government and private sector institutions.

Supportive Systems:

  • Spectrophotometer
  • Electrophoresis units
  • PCR machine
  • Gel documentation system

Ion Torrent Personal Genome Machine: Next generation sequencing methodologies have revolutionized almost every aspect of biological research. They have become low-cost enough to the point where it can be introduced at the clinical level for diagnostic testing. By facilitating large-scale marker discovery, it has increased our knowledge on the etiology of several diseases. It is now possible to obtain high-throughput sequence data at an unprecedented pace and coverage

Supportive systems:

  • Ion OneTouch 2 System
  • Ion OneTouch ES

ICCONS has a well equipped genetic laboratory in which karyotyping is done on routine basis. The study of karyotypes is important for cell biology and genetics, and the results have wide application in the field of biology and medicine. It is used to study cytogenetic abnormalities in

  • Autism
  • Mental Retardation
  • Learning Disability
  • Inborn Errors of Metabolism
  • Hard of Hearing
  • Downs Syndrome
  • Kleinfelter Syndrome
  • Turner Syndrome

Instrument used:

  • Leica DM 2000 Microscope

Supportive systems:

  • Biological Safety Cabinet LABLINE BSC-4)
  • Cooling Incubator (REMI CI-105)
  • Cooling Centrifuge (Eppendoff 5810R)

Patient Data Analysis:

1. Mechanisms behind integration of brain activity across specialized brain regions for cognitive processing and perception

Principal investigator (PI): Dr. P. A. Suresh (Director)

Funding agency: DST-CSRI

Duration: 36 months (2016-19); Amount: INR 88,00,000/-

2. Extensive mutational analysis of neural and synaptic genes using next generation sequencing approaches in Indian autism families

PI: Dr. Thanseem Ismail (Project Scientist, Dept. of Neurogenetics)

Funding agency: KSCSTE

Duration: 36 months (2016-2019); Amount: INR 21,23,000/-

3. Can microRNAs modulate telomere length in autism?

PI: Dr. Mahesh Mundalil Vasu

Mentor: Dr. Anitha Ayyappan Pillai

Funding Agency- DST-SERB

Duration- 24 months (2017-19); Amount: INR 19,20,000/-

4. Photoparoxysmal EEG responses in children with idiopathic generalized epilepsy- Genetic characterization and clinical correlates

PI: Dr. Anitha Ayyappan Pillai

Funding Agency: DST-CSRI

Duration: 36 months (2018-21); Amount: INR 25,00,000/-

5. Targeted Exon Sequencing to Identify Novel, Rare and/or Common Functional Genetic Variants in Autism: A Comprehensive Twin-Family Study of Autism in Kerala.

PI: Dr. Anitha Ayyappan Pillai

Funding Agency: KSCSTE

Duration: 36 months (2018-21); Amount: INR 23,27,000/-

6. DNA methylation analysis in specific language impairment.

PI: Dr. Anitha Ayyappan Pillai

Funding Agency: SERB

Duration: 36 months (2018-21); Amount- 43,97,200/-

Peer-reviewed international journals

1. Thanseem I, Vijitha V, Poovathinal SA, Anitha A. Is telomere length a biomarker of neurological disorders? Biomark Med (In press)

2. Poovathinal SA, Anitha A, Puliyappatta P, Viswambharan V, Thanseem I (2017) In Silico target identification of nootropic bioactive compounds from Ayurvedic herbs. Int J Ayurveda Pharma Res 5: 14-19.

3. Anilkumar A, Suresh PA, Devassy D (2017) Speech and language challenges in Indian children with Down syndrome. Asia Pac J Res I(L): 1-3.

4. Viswambharan V, Thanseem I, Vasu MM, Poovathinal SA, Anitha A (2017) miRNAs as biomarkers of neurodegenerative disorders. Biomark Med 11:151-167.

5. Vasu MM, Anitha A, Takahashi T, Thanseem I, Iwata K, Asakawa T, Suzuki K (2016) Fluoxetine increases the expression of miR-572 and miR-663a in human neuroblastoma cell lines. PLoS ONE 11:e0164425.

6. Poovathinal SA, Anitha A, Thomas R, Kaniamattam M, Melempatt N, Anilkumar A, Meena M (2016) Prevalence of autism spectrum disorders in a semi-urban community in south India. Annals Epidemiol 26:663-665.

7. Poovathinal S, Anitha A, Jayachandran N, Thanseem I (2015) Cognitive deficits and behavioral disorders in children: A comprehensive multidisciplinary approach to management. Annals Behav Sci 1:6.

Books/Book Chapter

1. Anitha A, Thanseem I (2015) microRNA and autism. In G. Santulli (Ed.), microRNA: Medical Evidence (pp. 71-83). Switzerland: Springer International Publishing.

ICCONS is an autonomous institute under Govt. of Kerala for the comprehensive multidisciplinary treatment, management, rehabilitation, and research and development in the area of cognitive and communicative disorders.

The Neurogenetics Department of ICCONS has a full - fledged, state - of - art facilities for basic and advanced molecular and genetics research . The primary objective of our research is to unravel the evolutionary,genetic and neurobiological mechanisms involved in basic cognitive functions by integrating current cutting - edge research across multiple disciplines including medical science, paramedical science, and basic and applied sciences .

Aspire Scholarships: A total of six students won the prestigious Aspire fellowship provided by the Dept of Collegiate Education, Govt of Kerala for pursuing their M Sc dissertation based on the short-term research conducted at the Neurogenetics Dept, ICCONS.

The department welcomes candidates interested in training programs, short - term research projects and Ph.D. programs

Contact Person: Dr. Anitha Ayyappan Pillai, PhD

Mob: 8589970421

Dr. Anitha Ayyappan Pillai, PhD

Associate Professor

Department of Neurogenetics

ICCONS, Kavalappara, Shoranur, Palakkad - 679523

Kerala, India

Mobile: 8589970421

Office: 0466 2224869

Email: anitha.a72@gmail.com