NIMS Centre for Advanced Biotechnology (NCAB)

NIMS Centre for Advanced Biotechnology (NCAB)

Disability associated with mental disorder/illness is one of the major contributors to the global burden of disease. Mental illnesses towards disability are specific, serious brain disorders that directly influence our thinking, motivation, emotion, and social interactions. Thus, early diagnosis would certainly improve the clinical pathology where NIMS is committed to saving the lives of an individual suffering from a mental disability and its related eg. Autism spectrum disorder, Alzheimer disease, Epilepsy, Insomnia and different degree of mental retardation, the child with low cognitive functions and so on.

These studies make use of evermore sophisticated brain imaging technologies and cognitive neuroscience. Building on these accomplishments, the search for disease vulnerability genes is likely to yield the most important tools yet in our ongoing attempts to understand the brain in mental illness where NIMS Medicity is committed to playing vital role using molecular diagnostic techniques for the early intervention of people suffering from mental disorders to improve their life quality.

Identifying genes that may play an important role in mental diseases is only a first step in understanding how a gene or genes affect an individual. Every human carries between ~ 18,000 coding genes; the products of these genes, acting together and in combination with the environment—enable every human characteristic.

NIMS is investing in these strategies to initiate the groundwork as a frontline leader for tomorrow’s discoveries, lead to the successful treatment.

Yet, NIMS is to succeed in its mission, the research we support must capitalize on the revolution that is occurring in genomic research and must take very seriously the complex genetics of mental disorders. Eventually, understanding the pathophysiology that underlies discrete forms of mental disorder will lead to novel, increasingly specific treatments and, followed by prevention.

GENETICS LABORATORY, NIMS MEDICITY

The genetics laboratory in NIMS is committed to addressing the following issue related to mental illness towards the disability, related to Autism spectrum disorder when an individual is reported to have the following clinical features.

Major clinical symptoms

  • Impaired social interaction
  • Impaired communication
  • Repetitive and stereotypic behaviours

Additional symptoms

  • Hyper- and hyposensitivity to sound and touch
  • Stereotypic behaviour around food and their presentation
  • Abnormal sleep pattern Seizures Tantrums and/or self-injurious and aggressive behaviours
  • Impaired motor development with toe walking, hypotonia, general clumsiness
  • Catatonia syndrome

X-linked, autosomal dominant, autosomal recessive.

This has been diagnosed by target gene panel analysis using Ion Torrent PGM sequencing

machine.

ADNP (OMIM: 611389)

ADSL (OMIM: 608222)

ALDH5a1 (OMIM: 610045)

AMT (OMIM: 238210)

ANKRD11 (OMIM: 611192)

ARID1B (OMIM: 614556)

CHD2 (OMIM: 602119)

FOXG1 (OMIM: 605515)

PCDH19 (OMIM: 300460)

SCN1A 9 (OMIM: 182389)

TSC1 (OMIM: 605284)

TSC2 (OMIM: 191092)

The genetics laboratory is equipped with the following major, the minor and supporting instrument to perform whole-genome sequencing (if necessary), targeted gene panel analysis and Realtime PCR based genotyping (eg. SNP detection, RFLP for diagnosis)

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