Faculty & Staff (Permanent) :
Dr. Madhulika Kabra
Additional Professor &
Officer-in-Charge,
Genetics Unit,
Department of Pediatrics,
AIIMS
Email : madhulikakabra@hotmail.com
, mkabra_aiims@yahoo.co.in
Molecular Genetics :
Dr. Manju Ghosh
Dr. Madhumita Roy Chowdhary
Ms. Sadhna Arora
Ms. Monica Tiwari
Cytogenetics :
Mr. Vinod Kumar
Scientist
Scientist
Lab. Technician
Lab. Technician
Lab. Technician
Biochemical Genetics :
Dr. Suman Vashisht
Ms. Ranjana Srivastava
Scientist
Technical Officer
Mr. K.S. Rawat
Ms. Bhumika Rakwal
Ms. Bimla Saxena
Technical Asst.
Lab. Technician
Lab. Assistant
Mr. Mukesh Kumar Lab. Assistant
Division of Genetics (Department of Pediatrics)
Clinical Cytogenetics Biochemical Molecular
Genetics Genetics Genetics
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Background :
Genetics unit is dision of the Department of Pediatrics, was started in 1966. Over the years this unit has developed into one of the premier human genetic units in the country and has been designated as a WHO collaboration center and center of excellence for training by the
Ministry of Health.
Clinical Services :
We are actively engaged in service, research, teaching and training in the field of human genetics. The unit runs a genetic counseling service three times a week and counsels about
2000 patients every year. The unit has expertise in dysmorphology and computer programs are extensively utilized for making clinical diagnosis. Facilities for diagnosis by cytogenetic, molecular and biochemical tests are available. Prenatal screening for thalassemia carrier status and maternal serum screening for neural tube defects and aneuploidies are regularly done. Prenatal diagnostic services for chromosomal disorders e.g.
Down syndrome, Fragile X syndrome(both cytogenetic and Molecular studies), biochemical disorders, aminoacid disorders, storage disorders and common single gene disorders, like thalassemia, Duchenne muscular dystrophy, hemophilia, spinal muscular atrophy and cystic fibrosis, are available. We have also standardized the molecular tests on analysis of Indian patients with congenital adrenal hyperplasia, albinism., nonsyndromic deafness (Connexin 26), Xmn polymorphism, Fetal Rh genotyping and, MTHFR polymorphism, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia. We are in process of standardizing tests for Prader willi, Angelman syndrome, Wilsons disease and mitochondrial disease.
Laboratory Facilities :
A. DNA DIAGNOSTICS & PRENATAL DIAGNOSIS
1.
Beta-Thalassemia . Diagnosis of all known Indian mutations numbering 12.
Linkage studies (PCR-based). Prenatal diagnosis on Chorionic villus samples, amniotic fluid cells and cord blood. Studies for XMN Polymorphism.
2.
Sickle cell disease and hemoglobin E . Similar facilities as for betathalassemia.
3.
Duchenne muscular dystrophy . Deletion screening of 24 exons. CA repeat analysis for detection of carries. Prenatal diagnosis based on deletion screening / CA repeat analysis.
4.
Spinal muscular atrophy . Diagnosis and prenatal diagnosis of affected subjects (homozygotes) – Exon 7 & 8 deletion of SMN gene and Exon 5 deletion of NAIP gene.
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Fragile X syndrome . PCR-based exclusion of fragile X A and E syndrome.
6.
Cystic Fibrosis . Diagnosis of common mutations. Prenatal diagnosis by allele specific amplification and linkage. Analysis of rare mutations by SSCP.
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Hemophilia A and Hemophilia B . Carrier screening and prenatal diagnosis using RFLP analysis.
8.
Congenital adrenal hyperplasia . Testing for 6 common mutations and prenatal diagnosis.
9.
Oculo-cutaneous albinism . PCR based test for common mutations.
10.
Rh typing on amniotic fluid / blood by PCR.
11.
Non-Syndromic hereditary hearing loss . PCR based test for known Indian mutations.
12.
Achondroplasia and hypochondroplasia molecular studies.
B. CHROMOSOMAL DISORDERS
1.
Peripheral blood cultures
2.
Prenatal diagnosis of chromosomal disorder
C. BIOCHEMICAL DISORDERS
1.
Aminoacid disorders :
Chemical tests in urine
Chromatography urine/plasma – 1 D and 2 D
Quantification of aminoacids by HPLC (being set-up)
1 st
Trimester screening being standardized
Mucopolysaccharidoses
Toludine blue spot test on urine
24-hr quantification of MPS in urine
Eletrophoresis for identification
Maternal serum screening (2 nd Trimester)
Alpha fetoprotein (MS-AFP)
Human Chorionic gonadotropin (hCG)
Unconjugated estriol
Galactossemia :
Screening by Beutler spot test
Quantitative assay
Enzyme assays in leukocytes/plasma for
Tay Sach disease, Sandhoff disease, GM1 gangliosidosis
Metachromatic leukodystrophy
Gaucher disease, Niemann Pick disease, Pompe disease
Hurler syndrome (MPS I)
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6. Prenatal diagnostic facilities for biochemical disorders
Academic activities and training :
1.
DBT workshop on Prenatal and postnatal diagnosis of Genetic disorders in collaborative with Department of Anatomy and Hematology, AIIMS, once every year February / March.
2.
Training facilities : Provision for short term / long training. Applications through Dean, AIIMS.
Major research activities past & ongoing :
S. No.
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Years Title and Granting Agency
1969 - 71 Study of sex chromatin in newborns
(I.C.M.R.)
1972 - 74 In vitro lymphoblastoid transformation with purified protein derivative as a diagnostic test in tuberculosis (I.C.M.R.)
1974 – 75 Chromosomal studies in protein caloric malnutrition (C.S.I.R.)
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1975 - 76 Study of sex chromosomal aneuploidy among criminals in Tihar Jain (Medical
Research Center, Mumbai)
1976 - 78 Action-oriented research of tribal communities in Andaman Islands (Ministry of Health & Family Welfare)
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1979 - 81 Study of alpha-fetoprotein in maternal serum and its correlation with perinatal morbidity and mortality (I.C.M.R.)
1980 - 81 Studies on etiology of jaundice in the newborn (A.I.I.M.S.)
1980 - 82 Action-oriented research on genetic disorders among tribal communities in
Bastar district of Madhya Pradesh
(I.C.M.R.)
1980 - 82 Immunogenetic studies in disorders of sexual development (D.S.T.)
1981 - 84 Multi-centric studies on genetic causes of mental retardation (I.C.M.R.)
1984 - 87 Multi-centric studies an genetic counseling and antenatal diagnosis (I.C.M.R.)
1985 - 86 Genetic studies in oral cancer (A.I.I.M.S.)
1987 - 89 Multi-centric Task Force in Genetics :
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1987 - 89 Strategies to save the primitive tribal communities in Andaman & Nicobar Islands from extinction (Planning Commission)
1988 a) Prevention of neural tube defects b) Identifying new syndromes in
India c) Anthropometry in areas of complex development (I.C.M.R.)
Investigation of cause of splenomegaly among the Paharia tribal community in
Suderpahari block, Bihar (I.C.M.R.)
1987 – 89 Prevention and management of Mental retardation in under-privileged communities communities (Dept. of Science &
Technology)
1991 - 96 Biotechnology for improving the health of
SC/ST communities (D.B.T.)
1994 – 95 Evaluation of laboratory methods for diagnosis of meningococcal meningitis
(A.I.I.M.S.)
1993 - 97 Study of malformations and Down syndrome in India – A multricentric study
(D.A.E.)
1995 – 03 Research & development of clinical cum molecular genetics (D.B.T.)
1996 – 97 Medico-Genetic and Nutritional problems of
SC communities in Orissa (Ministry of
Welfare)
1996 – 99 Control programme for thalassemia by antenatal screening (multicentric) (Indian
Council of Medical Research)
1997 – 06 Gene mapping of non-syndromic hereditary hearing impairment (Indo-US, NIH)
1998 – 02 Control program for Sickle cell disease in
Tribal population of Kerala (D.B.T.)
1999 - 00 Establishing CF services at New Delhi
International CF Association
1999 - 00 A Clinical study to assess the immunogenicity and reactogenicity of MMR vaccine Serum Institute of India Ltd., Pune
2000 - 03 Study on the chromosomal Q-
Heterochromatin region in the human population living on high altitudes of India
(D.R.D.O)
2000 - 04 To study the genetic profile of Indian children with cystic fibrosis (D.B.T.)
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2001 - 03 Early intervention for young children with
Down syndrome (A.I.I.M.S.)
2002 - 04 To study the effect of seasonal changes on growth of Indian children with cystic fibrosis supported by International cystic
Fibrosis (mucovicsidosis) Association
(Cystic Fibrosis Worldwide)
2004 – 05 Growth Hormone replace-ment in Turner’s
Syndrome (International Cystic Fibrosis)
Ongoing Role of Genetic Factors in Chronic
Pancreatitis (LG Company)
Ongoing Molecular studies for Wilsons Disease
(CSIR Fellowship)
Ongoing Cytogenetics and Molecular studies in
Chromosomal Breakage syndromes (CSIR
Fellowship)
Ongoing Survey of Prenatal Diagnostic Practices in
India as a Part of Multi Country Survey –
Developing Methods to Facilitate Informed
Choice Taking Into Account Concordance
Between the Principles that Govern the
Undergoing of Prenatal Tests and Practice
Across Europe and Beyond (SAFE)
Ongoing Economic modeling study
Non-invasive (NI) RhD testing in Europe &
Asia (SAFE)
Ongoing Noninvasive prenatal diagnosis of fetal Rh status and Beta Thalassemia using cell free fetal DNA in maternal circulation (SAFE)
Ongoing Diagnosis & counseling of genetic disorders testing Cytogenetics and molecular methods
(SAFE)
Ongoing Molecular Genetic Studies in Osteogenesis
Imperfecta (CSIR Fellowship)
Ongoing Molecular Genetic studies in
Leukodystrophy (UGC Fellowship)
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