About Us

Division of Genetics, is one of the oldest divisions of the Department of Pediatrics, AIIMS. It is one of the first of its kind in India since 1966 and has been a pioneer in providing comprehensive genetic services. Over the years, this division has developed into a premier human genetic division in the country and was designated as a WHO collaborating center for the fifth time since May 2020.It partners with the government of India on Rashtriya Bal SwasthyaKaryakram (RBSK).

Through technical inputs, the division plays a significant role in the implementation of India's Rare Disease Policy. The ICMR, DBT, and DST have generously financed the division for numerous research programs and capacity building, resulting in major improvements in diagnostics and patient care services.

The division was instrumental in the creation of a central genomics facility as part of AIIMS new Central Core Research Facility (CCRF).

Thrust activities include Patient care, education and training, and research as three main areas. Through developments in genetic testing and related technology, we actively contribute to the prevention and treatment of numerous genetic conditions, with the goal of improving patient care. We are a comprehensive clinical genetics center that provides integrated clinical and laboratory genetics services to a wide referral population in India and surrounding countries.The division's team interacts with a huge number of patients, and as a tertiary care referral hospital, it receives a considerable number of rare and undiagnosed patients.

The standard of care encompasses diagnosing patients with rare diseases using the latest diagnostic technologies (next generation sequencing (NGS), Sanger sequencing, MLPA, karyotyping, HPLC, and many others) and managing patients with the best available therapies.

Our objective is to improve the care of patients with genetic disorders by delivering low-cost postnatal and prenatal diagnostics, genetic counselling and establishing aworld-class standard of care therapeutic services.

Also designated as  ● WHO Collaborating Center for Training in Clinical & Laboratory Genetics in Developing Countries  ● Center of Excellence for Rare disorders,MOHFW 2021  ● Training center under DBT UMMID Program (2019-2022)

Faculty

	Dr Madhulika Kabra, MD Professor and Incharge, Division of Genetics, Department of Pediatrics Office address: First floor, Near Nursing college, Old OT Block, Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029 E-mail: madhulikakabra@hotmail.com, madhulika22@gmail.com Telephone: 011-26594585 Areas of interest: Intellectual disability, storage disorders,newborn screening, dysmorphology, monogenic disorders (special interest in non-syndromic deafness and cystic fibrosis)
	Dr Neerja Gupta, MD, DM Additional Professor, Division of Genetics, Department of Pediatrics Office address: Room no 840, 8th Floor, Mother and Child Block, AIIMS, New Delhi- 110029 E-mail: neerja17@gmail.com Telephone: 011-29576859 Areas of interest: Inborn errors of metabolism including lysosomal storage disorders, genomics of skeletal dysplasia, severe mendelian disorders and neurodevelopmental disorders,birth defects surveillance, newborn screening
	Dr.Madhumita Roy Chowdhury, PhD Senior Scientist E-mail: madhumita.rc@rediffmail.com Telephone: 011-26594585 Areas of interest: Disorders having large & complex genes like tuberous sclerosis, neurofibromatosis typeI, mitochondrial diseases. cystic fibrosis.
	Dr Rashmi Shukla, PhD (Genetics) Scientist II, Division of Genetics, Department of Pediatrics Office adress :Old OT Block, Division of Genetics, Department of Pediatrics, AIIMS Campus, New Delhi E-mail id: rashmishukla@aiims.edu, rushme_72@yahoo.com Telephone: 011-26594585 Areas of Interest : Impact of structural variation on genomic disorders, molecular mechanisms of disorders of DNA damage and repair, cancer cytogenetics
	Dr Pallavi Mishra Biochemist, Division of Genetics, Department of Pediatrics Office address: Ground Floor, Old OT Block, Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029 E-mail: mishpallavi@gmail.com Telephone: 011-26593558 Areas of Interest: Inborn error of metabolism, lysosomal storage disorders,metabolomics
	Dr Amita Scientist II, Division of Genetics, Department of Pediatrics Office Address: 1st Floor, Old OT Block, Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029 Email: amitagenetics@gmail.com Telephone: 011-26594585 Areas of Interest : Understanding molecular basis of various genetic disorders for improved diagnosis and gene editing based therapeutics

Current DM students 1. Dr Amit Gupta 2. Dr Rhea Syrian 3. Dr Richa Soni 4. Dr Soumalya 5. Dr Kathirvel 6. Dr Selva Manoj 7. Dr Rohit Sadanand 8. Dr Sarath R S

PhD students 1. Ms Nitika Langhe 2. Ms Akhila Sankar

a. Lysosomal storage disorders using Enzyme replacement therapy or substrate reduction therapies.
b. Small molecule therapies,such as NTBC for tyrosinemia I, as well as medical and dietary intervention for various inborn errors of metabolism.
c. Aminoacidopathies such as maple syrup urine disease, phenylketonuria, homocystinuria,tyrosinemia, organic acidemias such as methyl malonic acidemia, propionic acidemia.
d. Glutaric aciduria type 1,Urea cycle disorders, carbohydrate intolerance disorders such as galactosemia, hereditary fructose intolerance, fructose 1,6 biphosphatase deficiency, glycogen storage disorders, mitochondriopathies, congenital disorder of glycosylation and others.

a. Osteogenesis imperfecta, fibrodysplasia ossificans, achondroplasia, fibrous dysplasia, primordial dwarfism such as 3M syndrome, bloom syndrome, progeria a. Gene therapy for spinal muscular atrophy, Nusinersen and Risdiplam therapy for spinal muscular atrophy.
b. Newer therapies for Duchene muscular dystrophy

In addition, our division functions as an education and training facility for physicians and scientists from different fields. These include the following:

1. DM Medical Genetics Program

Since its inception in 2017, this programme has graduated four clinical geneticists who are now employed at reputed institutes.Past DM Residents

2. PhD in genetics

Through the entrance exam (Details can be accessed on AIIMS website). PhD. Scholar since 2003.

● Summer training- Four weeks of training in basics of clinical and laboratory genetics. Candidates are expected to spend approximately 52-55 hrs of work/week (30 working days).At the end of the training period the candidate is expected to make a short 10 mins presentation summing his/her experience.

● Short term (3 months)/ long training (6 upto 2 years) both in Clinical and Laboratory Genetics (Cytogenetics/Molecular Genetics/Biochemical Genetics). Applications received through Dean, Academics, AIIMS. click here to view detail & download form

● Training of the WHO fellows and others from the SEAR Region- Applications received through Dean, Academics, AIIMS. click here to view detail & download form

Patient care in the Division is a comprehensive integration of clinical services with biochemical, cytogenetics, molecular genetics and bioinformatics laboratories.

Through trained professionals, the Division of Genetics serves as a center for clinical diagnosis, genetic counseling, and comprehensive workup of a wide range of genetic disorders. It also provides comprehensive care for a variety of inherited metabolic disorders. Aside from the aforementioned services, it also provides counseling during the periconceptional period for a variety of indications, as well as antenatal screening for the detection of high-risk pregnancies for chromosomal aberrations. It also provides prenatal diagnosis for the detection of chromosomal abnormalities, single gene disorders, and inborn errors of metabolism. Every week, we conduct a Genetic Disorders and Birth Defect clinic dedicated to clinical genetic services, as well as two outpatient services that serve approximately 2500-3000 families each year. The following services are provided as part of clinical genetics services:

● Room No.6, 8, Tuesday & Friday 09.00 AM to 01.00 PM
● For periconceptionalcounseling
● Patients with various Genetic conditions Genetics and birth defects clinic (With prior appointment)
● Monday 2:00 PM to 5:00 PM
● Down Syndrome evaluation day- First Monday of every month
● Metabolic Clinic- Third Monday of every month

1.Enzyme replacement therapy- It is a type of therapy in which a deficient enzyme is administered intravenously to the patient over a period of several hours. It is currently available for Gaucher disease, Mucopolysaccaridois I, II, IV, and VI, Pompe disease, and Fabry disease through the compassionate access programme or through employee funding agencies.
2.Small molecule therapies, such as NTBC for tyrosinemia I, as well as medical and dietary intervention for various inborn errors of metabolism
3.Gene therapy for spinal muscular atrophy in collaboration with the Division of Pediatricneurology
4.Nusinersen and Risdiplam therapy for Spinal Muscular Atrophy under compassionate access program in collaboration with the Division of Pediatricneurology
5.Hemopoietic stem cell transplantation for mucopolysaccharidosis/ adrenoleukodystrophies and other lysosomal storage disorders or skeletal dysplasia or immunodeficiency in collaboration with Divisions of Pediatriconcology and Pediatricneurology
6.Intravenous bisphosphonate therapy for osteogenesis imperfecta 7.Multidisciplinary care for associated complications in patients with rare genetic disorder

We have four labs that collaborate closely to ensure that accurate, reliable results are available on time. Biochemical, cytogenetics and molecular genetics laboratories collaborate closely to offer accurate, reliable and on-time results to help with comprehensive diagnosis (postnatal and prenatal) and counselling to families. Bioinformatics and Fetal Autopsy services further augment services especially in complex scenarios. We are constantly working to improve our genetic diagnostic capabilities by utilizing cutting-edge technology.

Molecular genetic laboratory- Molecular Genetics Laboratory has expertise in both postnatal and prenatal DNA/molecular genetic testing. Molecular diagnosis of common single gene disorders such as beta thalassemia, duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, hemophilia A and B, cystic fibrosis, and achondroplasia is routinely available. Newer tests are added on a regular basis.Various molecular tests are listed in Annexure 3.

Cytogenetics laboratory- Conventional cytogenetic evaluation is offered on peripheral blood sample to affected individuals and their families in cases with development delay, intellectual disability, congenital malformations, dysmorphism, recurrent pregnancy loss, differences of sex development (DSDs), and primary amenorrhoea. Prenatal diagnosis for chromosomal abnormalities in high risk pregnancies is offered on amniotic fluid (AF), chorionic villi (CV) and cord blood/fetal blood. Rapid diagnosis of common aneuploidies 13 and 21 and sex chromosomes is offered on prenatal samples by quantitative fluorescent polymerase chain reaction (QF-PCR). Facility for storage of cultured cells from AF and CV for future DNA analysis is also available upon request. Various cytogenetic tests are listed in Annexure 4.

Biochemical genetic laboratory- This lab is unique in that it handles a variety of screenings, including metabolic screening, newborn screening, and prenatal screening for the first and second trimesters. It also provides enzyme-based tests and plasma amino acid levels for various metabolic inborn errors. It also offers prenatal diagnosis for a variety of IEMs. This lab will soon be well-equipped with LCMSMS for high-end metabolomics for routine diagnostics and research.Various biochemical tests are listed in Annexure 5.

Bioinformatics lab- This lab was recently established in response to increased demand for reanalysis of next generation sequencing raw data. This lab provides bioinformatics analysis for mendelian disorders using an updated pipeline and has several virtual panels for a variety of mendelian conditions. It also deals with chromosomal microarray analysis in-house for neurodevelopmental disorders.

This lab, which was also recently established, offers evaluation of malformed foetuses after pregnancy termination in order to make an accurate diagnosis and provide effective genetic counseling.

Details of laboratory tests (Annexure 3-DNA test list, Annexure 4-Cytogenetics,Annexure 5-Biochemical Genetics )

Instructions for sending the samples is given in Annexure 6.

• Genomic basis of unexplained intellectual disability, dysmorphic syndromes andrelated neurodevelopmental disorders
• Small molecule inborn errors of metabolism management outcomes
• Lysosomal storage disorders - biomarkers, mutation spectrum in India
• Down syndrome comorbidities and basis of phenotypic heterogeneity
• Genomics of uncharacterized and rare Skeletal dysplasia
• Utility of minimally invasive fetal autopsy
• Impact of structural variation on genomic disorders, molecularmechanisms of disorders of DNA damage and repair
• Breakpoint mapping of balanced chromosome rearrangements
• Functional consequences of genomic variations
• Genetic disorders having large & complex genes like tuberous sclerosis, neurofibromatosis, and mitochondrial diseases
• Spinal muscular atrophy pathogenesis and disease modifiers

Click here to view Key Publications of the division