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Medical Genetics

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Department of Genetics

Maulana Azad Medical College, New Delhi

1. Vision and Mission

The Department of Genetics at MAMC is dedicated to the integration of advanced genomic science into the continuum of patient care. Our mission is to provide world-class clinical genetic services, pioneer research in rare and complex disorders, and train the next generation of medical geneticists to lead the precision medicine revolution in India.

2. Clinical Centers of Excellence

We are among the earliest institutions designated as a Center of Excellence for Rare Diseases by the Ministry of Health and Family Welfare, Government of India. Our clinical services operates as a high-volume referral center, providing precision diagnosis and management for a diverse spectrum of genetic conditions:

  • Dysmorphology & Clinical Genomics: Expert phenotypic evaluation and syndromic identification for pediatric and adult patients.
  • Fetal Medicine & Prenatal Genetics: Specialized counseling and diagnostic services for high-risk pregnancies, including invasive prenatal testing and recurrence risk assessment.
  • Metabolic Clinic: A dedicated unit for the long-term management of Inborn Errors of Metabolism (IEM), integrating dietary, pharmacological, and enzyme replacement therapies.
  • Neuro-Genetics & Myopathy Clinic: Specialized focus on pediatric myopathies and neurodegenerative conditions.

3. Advanced Diagnostic Infrastructure

The department houses state-of-the-art laboratory facilities that serve as a backbone for both clinical diagnostics and academic research:

  • Molecular Genetics & NGS Unit: Utilizing Next-Generation Sequencing (NGS) and Sanger sequencing for the identification of pathogenic mutations and the rigorous interpretation of Variants of Unknown Significance (VUS).
  • Biochemical Genetics (TMS/GCMS): A specialized laboratory for high-throughput screening and metabolic profiling, providing definitive diagnoses for organic acidemias and fatty acid oxidation disorders.
  • Cytogenetics Laboratory: High-resolution karyotyping and Molecular Cytogenetics (FISH/CMA) for the detection of chromosomal imbalances.

4. Newborn Screening (NBS) Program

MAMC serves as a pivotal hub for Newborn Screening in India. Our program “NEEV” is at the forefront of public health genetics, focusing on the early detection of treatable disorders to prevent irreversible disability. We lead initiatives in state-level screening protocols and the development of standardized dried blood spot (DBS) analysis.

5. Research and Innovation

The department is a vibrant center for extramural research, frequently collaborating with national bodies like the ICMR, DBT, IGIB etc.

 

6. Academic Programs and Training

We pride ourselves on a rigorous academic environment that fosters intellectual growth:

  • Medical Education: Comprehensive genetics curriculum for undergraduate and postgraduate including Super speciality students.
  • Specialized Fellowships: Training programs for clinicians and scientists in molecular diagnostics and genetic counseling.
  • CME & Quality Assurance: Regularly hosting national workshops on medical education quality-assurance and laboratory standards.

Key Administrative Information

·  OPD Rooms 735 & 743, 7th Floor, OPD Block, Lok Nayak Hospital

·  Clinic Days:

  • Monday & Thursday: 9:00 AM onward

  • Tuesday: 2:00 PM onward

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