Summary
Overview
Work History
Education
Skills
Accomplishments
Affiliations
Training And Workshops
Conferences Meetings Symposium
Presentations Posters Exhibits
Teaching And Curriculum Development
Publications
Educational Qualifications And Certifications
Certification
Languages
Timeline
Generic

Lekshmi S Nair

Trivandrum

Summary

Experienced clinical geneticist specializing in medical genetics, pediatric neurology, and developmental neurology. Currently working as a consultant in Medical Genetics at NIMS Medicity, Neyyatinkara, Trivandrum, Kerala. Holds a Doctorate of National Board degree in Medical Genetics, a Post Doctoral Fellowship in Pediatric Neurology, and specialized training in Pediatrics (DNB). Registered with the GMC (GMC No: 7979803). Successfully completed MRCPCH Parts 1 and 2, as well as the European Certificate in Medical Genetics and Genomics (ECMGG) in 2022. Skilled in diagnosing and managing complex genetic disorders, dedicated to improving patient care through evidence-based practice and ongoing professional development. Seeking to utilize expertise to deliver exceptional patient care, contribute to research, and advance the field of medical genetics.

Overview

17
17
years of professional experience
1
1
Certification

Work History

Molecular Genetics CME, CDFD
11.2018

Cytogenetics CME, Sir Gangaram
10.2018
  • Th ICMR course on Medical Genetics and Genetic Counselling (SGPGI, Lucknow, 2017)

Consultant

NIMS Medicity
02.2021 - Current

Clinical Geneticist

NIMS Medicity
02.2021 - Current
  • Genetics at NIMS Medicity, a premier multispecialty hospital
  • Evaluate and diagnose patients with genetic disorders in the outpatient department (OPD), including pediatric, adult, and prenatal cases
  • Order and interpret advanced laboratory investigations to establish accurate diagnoses
  • Provide comprehensive genetic counseling to patients and families, focusing on disease management, recurrence risks, and preventive strategies for future generations
  • Collaborate with referring clinicians to discuss complex genetic cases and formulate individualized treatment plans
  • Conduct academic sessions, including genetics classes for developmental pediatricians, nursing students, and nurses
  • Organize and lead local and national academic webinars and seminars for healthcare professionals and students, fostering knowledge sharing and professional development
  • Deliver expert consultation for genetic disorders, including diagnostic evaluations, personalized treatment plans, and risk assessment
  • Educate patients and families on genetic conditions, inheritance patterns, and preventive measures
  • Work closely with multidisciplinary teams to ensure holistic, patientcentered care and optimal outcomes.

Senior Resident

Nizam’s Institute of Medical Sciences
05.2017 - 07.2020
  • Clinical Expertise: Diagnosed and managed a wide range of genetic disorders, demonstrating proficiency in evaluating complex cases and formulating effective treatment plans
  • Areas of focus in the residency
  • Prenatal Genetics: Counseling and testing for genetic conditions during pregnancy
  • Pediatric Genetics: Diagnosis and management of congenital anomalies and developmental disorders
  • Cancer Genetics: Assessing hereditary cancer syndromes and providing risk assessment
  • Metabolic Genetics: Managing inborn errors of metabolism and other biochemical disorders
  • Adult Genetics: Addressing genetic conditions that manifest in adulthood, such as hereditary cardiovascular or neurodegenerative disorders
  • Attend lectures, conferences, and workshops to stay updated on the latest advancements
  • Research and Academic Contributions: Actively participated in research projects and academic activities, contributing to the advancement of knowledge in the field of medical genetics
  • Maintained accurate and detailed medical records.

Research Assistant

SAT Hospital, Govt. Medical College
12.2016 - 04.2017
  • ICMR project on Hospital Based Sentinel Surveillance for Streptococcal pneumoniae and other Invasive Bacterial Diseases, in ICMR project on Hospital Based Sentinel Surveillance for Streptococcal pneumoniae and other Invasive Bacterial Diseases in 2017 (from 6 – 12 – 2016

Junior

SAT Hospital, Govt. Medical College
02.2008 - 03.2014
  • Evaluate and manage pediatric patients in various settings, including outpatient clinics, inpatient wards, the neonatal intensive care unit (NICU), pediatric intensive care unit (PICU), and emergency departments
  • Perform comprehensive physical examinations and developmental assessments
  • Diagnose and treat common pediatric conditions, such as respiratory infections, asthma, gastroenteritis, and diabetes
  • Managed acute and chronic illnesses, including congenital disorders, genetic conditions, and infectious diseases
  • Provided care for newborns, including routine well-baby checks, neonatal resuscitation, and management of prematurity or congenital anomalies
  • Performed procedures such as lumbar punctures, intravenous line placement, intubation, and circumcision
  • Rotated through various subspecialties, such as cardiology, genetics, neurology, endocrinology, infectious diseases, and critical care
  • Gained exposure to pediatric surgery, adolescent medicine, and child psychiatry
  • Attended lectures, grand rounds, and conferences to stay updated on pediatric medicine
  • Participated in case discussions, journal clubs, and simulations to enhance clinical knowledge
  • Taught medical students and junior residents
  • Maintained accurate and detailed medical records, including history and physical exams, progress notes, and discharge summaries
  • Wrote prescriptions, order tests, and communicate with consulting specialists
  • Communicated effectively with patients and their families to explain diagnoses, treatment plans, and prognoses
  • Provided anticipatory guidance on topics such as nutrition, immunizations, safety, and developmental milestones
  • Addressed psychosocial issues, including behavioral problems, school difficulties, and family dynamics
  • Did overnight and weekend coverage for pediatric wards, emergency departments, and NICUs
  • Managed acute and emergent conditions, such as seizures, respiratory distress, and trauma
  • Worked closely with a multidisciplinary team, including nurses, social workers, dietitians, and therapists
  • Collaborated with specialists to provide comprehensive care for complex patients
  • Developed skills in time management, ethical decision making, and patient advocacy
  • Developed excellent communication and interpersonal skills and the ability to work in high pressure environments, such as the PICU and the emergency department.

Senior Resident

SAT Hospital, Govt. Medical College
02.2013 - 02.2014
  • Pediatric Neurology (Post Doctoral Fellowship in Pediatric Neurology, Evaluate and manage pediatric patients with neurological conditions such as epilepsy, migraines, developmental delays, cerebral palsy, neuromuscular disorders, genetic/metabolic disorders, and neuroinflammatory diseases
  • Perform detailed neurological examinations and interpret findings
  • Develop and implement treatment plans under the supervision of attending physicians
  • Order and interpret diagnostic tests, including EEGs (electroencephalograms), MRIs, CT scans, lumbar punctures, and genetic testing
  • Learn to perform and interpret neurophysiological studies (e.g., nerve conduction studies, electromyography)
  • Attend lectures, conferences, and workshops to stay updated on the latest advancements in pediatric neurology
  • Participate in journal clubs and case discussions to enhance clinical knowledge
  • Teach medical students and junior residents
  • Engage in clinical or basic science research related to pediatric neurology
  • Present findings at conferences
  • Maintain accurate and detailed medical records
  • Write progress notes, discharge summaries, and consultation reports
  • Work closely with a multidisciplinary team, including pediatricians, neurosurgeons, physical therapists, occupational therapists, speech therapists, and social workers
  • Communicate effectively with patients' families to explain diagnoses, treatment plans, and prognoses
  • Provide emergency neurological care for pediatric patients during oncall shifts
  • Manage acute neurological conditions such as status epilepticus, meningitis, or traumatic brain injury.

Senior residency

SAT Hospital, Government Medical College
01.2013 - 01.2014

Medical Officer

Alappuzha
02.2011 - 01.2012
  • Received training of 1 year in rural services in difficult rural areas in Alappuzha district, Kerala where the only access to patients is travel through back waters

Junior Resident

Government Medical College
01.2008 - 01.2011
  • Best paper presentation (oral presentation) in National Conference of Society of Indian Academy of Medical Genetics in November 2019, Hyderabad, India
  • Best paper presentation in 9th National Neuropedicon, Hubli, India in 2009
  • Training/ Workshops
  • Attended the virtual conference “CRISPR and Beyond: Perturbations at Scale to Understand Genomes” on 13 September 2021 by Wellcome Genome Campus, UK
  • Attended the advanced course on Next Generation Sequencing Bioinformatics by Wellcome Genome Campus from February 1st to 5th, 2021
  • Completed online course of “Epigenetic control of Gene Expression” by the University of Melbourne, conducted by Coursera on 19th May, 2020
  • Completed online course of “From Disease to Genes and Back” by the Novosibirsk State University, Russia, conducted by Coursera on 28th May, 2020
  • Attended the International Summit in Human Genetics and Genomics, NHGRI, NIH, Bethesda, USA in September 2019 as a scholar
  • Received 9 months of laboratory training in Molecular and Cytogenetics in CDFD (Center for DNA Finger printing and Diagnostics)

Senior Resident

Nizam’s Institute of Medical Sciences
01.2017 - 1 1

Education

DrNB in Medical Genetics -

Nizam’s Institute of Medical Sciences
07.2020

Post Doctoral Fellowship - Pediatric Neurology

Indian Academy of Pediatrics

DNB Pediatrics

SAT Hospital Govt. Medical College
Trivandrum
03-2014

Post Graduate Diploma - Developmental Neurology

Kerala University

MBBS -

T.D. Medical College
Alappuzha, Kerala
01.2004

Skills

  • Diagnosis and management of genetic disorders
  • Data and report analysis
  • Genetic counseling and risk assessment
  • Multidisciplinary collaboration
  • Patient and family education
  • Research and academic training
  • Patient care
  • Data analysis
  • Clinical education
  • Clinical assessment
  • Healthcare management

Accomplishments

  • Best paper presentation (oral presentation) in National Conference of Society of Indian Academy of Medical Genetics in November 2019, Hyderabad, India.
  • Best paper presentation in 9th National Neuropedicon, Hubli, India in 2009.

Affiliations

  • Registered with the General Medical Council (GMC), UK.
  • Member of the Indian Academy of Pediatrics.

Training And Workshops

  • CRISPR and Beyond: Perturbations at Scale to Understand Genomes, 09/13/21, Wellcome Genome Campus, UK
  • Next Generation Sequencing Bioinformatics, 02/01/21 to 02/05/21, Wellcome Genome Campus
  • Epigenetic control of Gene Expression, 05/19/20, University of Melbourne, Coursera
  • From Disease to Genes and Back, 05/28/20, Novosibirsk State University, Coursera
  • International Summit in Human Genetics and Genomics, 09/2019, NHGRI, NIH, Bethesda, USA
  • Molecular Genetics CME, 11/2018, CDFD, Hyderabad
  • Cytogenetics CME, 10/2018, Sir Gangaram Hospital, Delhi
  • 16th ICMR course on Medical Genetics and Genetic Counselling, 2017, SGPGI, Lucknow
  • Pediatric Epilepsy Training Course Level 1 (PET1), 08/14/16, British Neurology Association, Trivandrum, Kerala
  • Workshop on Neonatal Advanced Life Support, 2009, Institute of Child Health, Chennai
  • Workshop on Paediatric Advanced Life Support, 2008, SAT Hospital, Trivandrum
  • Workshop on Basic Life Support and Advanced Cardiac Life Support, 2008, SAT Hospital, Trivandrum

Conferences Meetings Symposium

  • 6th Annual Conference of the Society for Indian Academy of Medical Genetics, Hyderabad, India, 11/2019
  • International Summit in Genetics and Genomics, NHGRI, NIH, Bethesda, USA, 09/2019
  • Indo-US Symposium on Genetic Neuromuscular Disorders & 6th Annual Conference of the Society for Indian Academy of Medical Genetics, Hyderabad, India, 11/2019
  • 5th Annual Conference of the Society of Indian Academy of Medical Genetics and 4th International Conference of Birth Defects, CMC, Velloor, India, 12/2018
  • International Conference of Pediatric Neurology, Trivandrum, Kerala, 03/03/18 to 03/05/18
  • Research Methodology and Medical Ethics, NIMS, Hyderabad, 12/2017
  • CME on 'Recent Advances in Pediatric Genetics', NIMS, Hyderabad, 12/05/17
  • Thesis protocol and Research Methodology, Indian Institute of Public Health (IIPH), Hyderabad, 06/14/17 to 06/16/17

Presentations Posters Exhibits

  • A new multiple malformation syndrome with Sacrococcygeal Agenesis and Lower Limb Aplasia associated with Biallelic Variant in the TBX4 gene, 6th Annual Conference of the Society for Indian Academy of Medical Genetics, Hyderabad, India, 11/2019, Winner of best oral paper presentation
  • Clinical and Etiological Spectrum of Childhood-Onset Genetic Leukoencephalopathies, 4th International Conference of Birth Defects, CMC Vellor, India, 12/2018, Poster
  • MISSLA phenotype due to biallelic DONSON variants: A new addition to Microcephalic Primordial Dwarfism phenotype, 4th International Conference of Birth Defects, CMC Vellor, India, 12/2018, Poster
  • Juvenile Myelomonocytic Leukemia in a Child with Neurofibromatosis 1, 4th International Conference of Birth Defects, CMC Vellor, India, 12/2018, Poster
  • Rassmusen’s Encephalitis with varying presentation, 13th National Pediatric Neurology conference, Trivandrum, Kerala, 12/2013, Oral presentation
  • Atypical presentations of Canavan syndrome, 9th National Pediatric Neurology Conference, Hubli, Karnataka, India, 11/2009, Winner of best Oral Paper presentation

Teaching And Curriculum Development

  • Seminars for faculty/ residents/ Paediatricians
  • Clinical genetics classes for BSc Nursing students
  • Interdepartmental seminars on Clinical Genetics
  • Case presentations and Journal clubs
  • Tutorials for Under graduate (MBBS) students

Publications

  • Etiologic Spectrum of Pediatric Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India, Pediatric Neurology, 152, 2024, 130152, https://doi.org/10.1016/j.pediatrneurol.2023.12.027
  • Newer Therapies in Neuromuscular Disorders, Neurodisabilities rehabilitation therapy, MKC Nair, Sreetama Chaudhary, Amrita G, 2023, 391-395
  • Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India, Journal of Fetal Medicine, 2023/05/12, 10.1055/s004357037
  • Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis and multiple joint deformities further expansion of DONSON Cell Cycleopathy phenotypic spectrum, American Journal of Medical Genetics Part A, 10.1002/ajmg.a.62725
  • GDD: Genetic Approach, Developmental Pediatrics, PA Mohammed Kunju, Lekshmi S Nair, MKC Nair, 2022, 420436
  • GDD: Chromosomal Disorders (Down Syndrome) Verified, Developmental Pediatrics, PA Mohammed Kunju, Lekshmi S Nair, MKC Nair, 2022, 407419
  • GDD: Introduction, Developmental Pediatrics, PA Mohammed Kunju, Lekshmi S Nair, MKC Nair, 2022, 359367
  • GDD: Objectives in Evaluation, Developmental Pediatrics, PA Mohammed Kunju, Lekshmi S Nair, MKC Nair, 2022, 368391
  • GDD: Common Neurometabolic and Other Conditions, Lysosomal Storage Disorders (LSD): Sphingolipidoses, Developmental Pediatrics, PA Mohammed Kunju, Lekshmi S Nair, MKC Nair, 2022, 446472
  • A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4, Eur J Hum Genet, 2020 May, 28, 5, 669673
  • Inherited Disorders of DNA repair, Genetic Clinics, SIAMG, 10, 2017

Educational Qualifications And Certifications

  • GMC Registration, Permanent registration with the General Medical Council (GMC No: 7979803).
  • MRCPCH, Cleared Parts 1 and 2 (05/01/24 and 06/01/24); preparing for Part 3 clinical exam in 2025.
  • ECMGG, Cleared the European Certificate in Medical Genetics and Genomics (2022).
  • DrNB in Medical Genetics, Completed 3-year senior residency at Nizam’s Institute of Medical Sciences, Hyderabad.
  • Post Doctoral Fellowship, Pediatric Neurology (Indian Academy of Pediatrics).
  • Post Graduate Diploma, Developmental Neurology (Kerala University).
  • DNB Pediatrics, 3-year specialization in Pediatrics.
  • MBBS, T.D. Medical College, Alappuzha, Kerala, India (1998–2004).

Certification

· GMC Registration: Permanent registration with the General Medical Council (GMC No: 7979803).

· MRCPCH: Cleared Parts 1 and 2 (May and June 2024); preparing for Part 3 clinical exam in 2025.

· ECMGG: Cleared the European Certificate in Medical Genetics and Genomics (2022).

Languages

English
Bilingual or Proficient (C2)
Hindi
Bilingual or Proficient (C2)
Tamil
Advanced (C1)
Telugu
Intermediate (B1)

Timeline

Consultant

NIMS Medicity
02.2021 - Current

Clinical Geneticist

NIMS Medicity
02.2021 - Current

Molecular Genetics CME, CDFD
11.2018

Cytogenetics CME, Sir Gangaram
10.2018

Senior Resident

Nizam’s Institute of Medical Sciences
05.2017 - 07.2020

Senior Resident

Nizam’s Institute of Medical Sciences
01.2017 - 1 1

Research Assistant

SAT Hospital, Govt. Medical College
12.2016 - 04.2017

Senior Resident

SAT Hospital, Govt. Medical College
02.2013 - 02.2014

Senior residency

SAT Hospital, Government Medical College
01.2013 - 01.2014

Medical Officer

Alappuzha
02.2011 - 01.2012

Junior

SAT Hospital, Govt. Medical College
02.2008 - 03.2014

Junior Resident

Government Medical College
01.2008 - 01.2011

Post Doctoral Fellowship - Pediatric Neurology

Indian Academy of Pediatrics

Post Graduate Diploma - Developmental Neurology

Kerala University

DrNB in Medical Genetics -

Nizam’s Institute of Medical Sciences

DNB Pediatrics

SAT Hospital Govt. Medical College

MBBS -

T.D. Medical College
Lekshmi S Nair