ANNUAL REPORT OF THE
DNB MEDICAL GENETICS SUPER-SPECIALITY COURSE
JOINTLY CONDUCTED BY
National Institute of Biomedical Genomics, Kalyani
Biomedical Genomics Centre, Kolkata
SSKM Hospital and
Institute of Post­Graduate Medical Education and Research, Kolkata
Period of the report: May 2015 – Apr 2016
Coordinator of DNB Medical Genetics Super-Speciality Course:
Saroj Kant Mohapatra, MD,
Assistant Professor,
National Institute of Biomedical Genomics, Kalyani
Principal Investigator of DNB Medical Genetics Super-Speciality Course
(DBT Project):
Prof. Partha P. Majumder, Director,
National Institute of Biomedical Genomics, Kalyani
Email: [email protected]
Background: In the year 2015, a DNB Super-Speciality Course in Medical Genetics has been initiated
as a collaborative venture of the National Institute of Biomedical Genomics (NIBMG), Kalyani; SSKM
Hospital and the Institute of Post-Graduate Medical Education and Research (IPGMER), Kolkata; and
the Biomedical Genomics Centre (BMGC), Kolkata. The students for this course are selected from the
post-graduate specialities on the basis of a national screening test done by the National Board of
Examinations, India. The objective of this course is to make the student a successful practitioner of
Medical Genetics.
The training is divided into three parts: theory, laboratory and clinical assignments.
Theory:
Classes are held in the mornings and taught by the faculty members of NIBMG. Each semester
constitutes of several modules. The following topics have been covered:
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Principles of human genetics
◦ The history and impact of genetics in medicine
▪ Gregor Mendel and the Laws of Inheritance
▪ DNA as the Basis of Inheritance
▪ The Origins of Medical Genetics
▪ Types of Genetic Disorders (single gene disorders, Chromosomal disorders, Polygenic
disorders, Somatic cell genetics, mitochondrial disorders)
▪ Major New Developments- The Human Genome Project, HapMap and 1000 Genomes
projects, Encode project
▪ Internet resources for medical genetics
◦ Basic population genetics
▪ Hardy Weinberg Principle
◦ Patterns of inheritance
▪ Polygenic and multifactorial inheritance
▪ Mendelian Inheritance- Autosomal dominant, Autosomal recessive, Sex- linked recessive
and dominant inheritance
▪ Multiple Alleles and Complex Traits
▪ Genetic heterogeneity
▪ Variable expressivity
▪ Genetic instability and Anticipation
▪ Mosaicism
▪ Uniparental Disomy
Polygenic and multifactorial inheritance
◦ Genomic Imprinting
◦ Mitochondrial Inheritance
Clinical genetics
▪ Incidence, Definition and Classification of Birth Defects
Laboratory:
In the laboratory, the students were first taught basic biosafety procedures in the laboratory. The
following topics have been covered: isolation of genomic DNA from blood (by modified Miller 1988
protocol; and using DNA isolation kit), designing primers for amplification of specific genomic regions,
Polymerase Chain Reaction, DNA gel electrophoresis, Restriction Fragment Length Polymorphism. For
each topic, generally, the students were first taught the principle of the procedure, followed by a
demonstration of the protocol. Lastly, the students performed the procedure themselves under
supervision.
Clinical Posting:
The following departments of IPGMER are participating in the clinical and laboratory training of the
students of the DNB Medical Genetics course: [1] Department of Neonatology, [2] Bangur Institute of
Neurosciences (Department of Neuromedicine).
Department of Neonatology, Outpatient Department:
Dr. Tapas Som, Associate Professor, Department of Neonatology, is assistant coordinator of the DNB
Medical Genetics Super-Speciality Course and has been supervising clinical posting of the students in
the department of Neonatology, IPGMER, since May 2015. The students are posted in the OPD every
Thursday of the week. In the period May 2015 – Apr, 2016, 74 cases have been seen by the student under
the supervision of faculty members of the department. The conditions seen at the clinic are listed below.
Condition
Number of cases
Down Syndrome 17
Congenital Deafness 5
Cleft Palate 4
Perinatal Birth Asphyxia with 4
Microcephaly
Regression in Infant 4
Spastic Infant (Quadriparesis) 4
Turner Syndrome (adolescent) 4
Hydrocephalus 3
Neurofibromatosis 3
Congenital heart Disease 2
Duchenne Muscular Dystrophy
2
Haemophilia 2
Myasthenia Gravis 2
Obesity 2
Xeroderma pigmentosum
2
Ambiguous Genitalia 1
Amniotic Band 1
Apert Syndrome 1
Arskogg Syndrome 1
Beta­thalassaemia Major 1
Cornelia de Lange Syndrome 1
Craniosynostosis 1
Goldenhar Syndrome 1
Hereditary Multiple Exostosis
1
Holoprosencephaly 1
Department of Neonatology, Cytogenetics Laboratory:
The student is routinely attending the Cytogenetics Laboratory. Karyotype analysis has been done for 10
cases. The student has participated in cell culture of blood cells followed by harvesting (15 cycles).
Amniocentesis:
The DNB student has attended 2 sessions of amniocentesis at IPGMER.
1st case – Previous baby – Beta thalassaemia major, both parents trait +ve
2nd case – Previous baby with open neural tube defect, H/O 2 spontaneous abortions
Bangur Institute of Neurosciences – Outpatient Department
The student attends the Neurogenetics OPD on Tuesday and has seen 44 cases during the period May
2015 – April 2016. The conditions seen at the clinic are listed below.
Condition
Duchenne Muscular Dystrophy
Huntington Disease Becker Muscular Dystrophy
Myotonic Dystrophy Friedreich Ataxia
Limb­Girdle Muscular Dystrophy
Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 3 Number of cases
10
10
6
5
2
2
2
2
2
1
Bangur Institute of Neurosciences – Neurogenetics Laboratory
The cases seen at the Neuromedicine OPD are followed up with genetic testing at the adjacent
laboratory. The DNB student has participated in DNA isolation and PCR of samples from cases of DMD,
BMD, Huntington disease, SCA Panel 1, 2, 3, 4, 5, 6, 7, 8, 10, 12, Fredrick’s Ataxia in the neurogenetics
laboratory. She has been trained in interpretation of these tests.
Other Clinics
The DNB (Medical Genetics) student has been attending the Genetics OPD of the Institute of Child
Health (ICH), Kolkata since February, 2016 and relevant seminars held at ICH. In the period Feb – Apr,
2016, 36 cases have been seen by the student under the supervision of Prof. Apurba Ghosh, Director,
ICH. The conditions seen at the clinic are listed below.
Condition
Down Syndrome
Hunter Syndrome
Obesity
Trigonocephaly
Hypotonic Infant
Spondyloepiphyseal Dysplasia
Achondroplasia
Alkaptonuria
Ataxia telangiactasia
Bilateral Congenital Talipes Equino Varus (CTEV)
Childhood Turner
Chondroectodermal Dysplasia
Congenital Adrenal Hyperplasia
Cornelia de Lange Syndrome
Ectodermal Dysplasia
Kabuki Syndrome
Krabbe Disease
Neurofibromatosis
Noonan Syndrome
Rett Syndrome
Spinal Muscular Atrophy
Turner Syndrome
Velocardiofacial Syndrome
Number of cases
4
4
3
3
2
2
1
1
1
1
1
1
1
1
1
1
1
1
1
1
1
1
1
Seminars attended
The DNB student has participated in seminars on the following topics at ICH, as listed below.
Topic
Homocystinuria
Inborn Errors of Metabolism
Venue
Role
Institute of Child Health Participant
Institute of Child Health Participant
Seminars attended and presented
The DNB student has participated in seminars on the following topics at different departments of
IPGMER, as listed below.
Topic
Stillbirth
Traditional Screening for Down
Syndrome
Causes of Dysmorphology
Genetics of Dysmorphology
Growth
Teratogens
Genetics of Amyotropic Lateral
Sclerosis
Genetics of Wilson Disease
Lysosomal Storage Disorders
Adolescent Health
Sickle Cell Disease
Thalassaemia
Venue
IPGMER Neonatology
Role
Speaker
IPGMER Neonatology
Speaker
IPGMER Neonatology
IPGMER Neonatology
IPGMER Neonatology
IPGMER Neonatology
Speaker
Speaker
Speaker
Speaker
Bangur Institute of Neurosciences
Speaker
Bangur Institute of Neurosciences
Bangur Institute of Neurosciences
IPGMER Neonatology
Biomedical Genomics Centre
Biomedical Genomics Centre
Participant
Participant
Participant
Participant
Participant
Project Work:
The students have completed a small project on collection of family history information on diseases
(diabetes mellitus, hypertension) and drawing pedigrees. The student has finalized the thesis protocol
titled: “Deciphering the impact of genetic variation and transcriptional alterations of the TLR9 gene in
cervical cancer pathogenesis” (Dr. Saswati Mukhopadhyay) under the supervision of Prof. Sharmila
Sengupta, faculty member of NIBMG.
Telemedicine Sessions:
The students participate in the Genetics Telemeeting accessible via video-conferencing at NIBMG. The
sessions are held once every month and include case presentations and discussions.
Workshop Participation:
As a part of the curriculum, the students participated in the following workshops.
14th ICMR Course on Medical Genetics and Genetic Counseling from July 20 – August 1,
2015 organized by the Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of
Medical Sciences, Lucknow. The faculty included renowned medical geneticists from different centres of
India, including, SGPGI, AIIMS, Sir Gangaram Hospital, CDFD, Nizam's Institute of Medical Sciences,
Kasturba Medical College, Narayana Hrudayalaya, etc. The workshop included lectures, demonstrations,
OPD visits, laboratory techniques, such as DNA isolation, PCR, MLPA, electrophoresis, karyotyping,
FISH, Sanger sequencing, fetal autopsy, etc. The following topics were covered:
• Inborn errors of metabolism
• Genetic disorders in ART pregnancies
• Cancer genetics
• Genetic counseling: challenges
• Contemporary clinical genetics
• Clinical cytogenetics
• Prenatal cytogenetics
Molecular cytogenetics
Genetics of congenital heart malformations
Drawing pedigree
Dysmorphology diagnosis
Ectodermal dysplasia
Ethical issues in medical genetics
Fetal therapy
Gene mapping strategies
Genetics of common disorders
Genetics of reproductive failure
Genetic approach to hearing loss
Mendelian inheritance
Non-mendelian inheritance
Diagnosis and counseling issues in developmental delay/ intellectual disability
Molecular Pathology of Genetic Disorders
Newborn Screening in India
Neurodegenerative disorders
Next generation sequencing
Neural tube defects and hydrocephalus
Pharmacogenomics
Prenatal diagnostic techniques
Pre-pregnancy clinic and exposure to teratogens
Principles of genetic counseling
Genetics of short stature
Stem cells
Strategies for treatment of genetic disorders
Prenatal screening for trisomy 21
Annual CME of the Institute of Child Health: held on the 15th August, at Park Plaza, Kolkata. The
CME covered several topics including genomic medicine, endocrine case reports, metabolic disorders,
metabolic myopathy and inflammatory bowel disease.
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National Cytogenetics course for DNB Genetic candidates at Sir Ganga Ram Hospital November 23
- 28, 2015. The following topics were covered:
• Introduction to clinical cytogenetics
• Identification of metaphase chromosomes under microscope
• Staining metaphase chromosomes by Giemsa stain
• Harvesting cells
• Karyotyping
• FISH
• Chromosomal structural and numerical anomalies
• Culture of amniotic fluid cells
• Arranging chromosomes on computer screen using metaphor X software
• Mosaicism
• Preimplantation genetic screening
• Advanced cytogenetics
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Microarray
Genetic Counselling
The student has attended sessions on genetic counselling at SSKM Hospital and the Institute of Child
Health, Kolkata for the following conditions:
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Down syndrome, mother’s age < 30yrs
Achondroplasia, father’s age >40yrs
Congenital deafness with family history (mother, mat. Aunt, grandmother affected)
Neurofibromatosis with both parents affected
Hunter disease (both sons affected)
Obesity with leptin receptor defect
Beta Thalassaemia major in son, prenatal counselling
Huntington disease, affected father, paternal uncle
Lecture Classes in Medical Genetics
We have started a lecture series in medical genetics for the DNB Medical Genetics students. These
lectures are held at the Bio-Medical Genomics Center, Kolkata (located inside the Polyclinic of
IPGMER). The first lectures are delivered by Prof. (Dr.) Malay Kumar Ghosh in the following topics:
Genetics in medicine, Sickle cell anaemia, and Thalassemia. The lectures are conducted through casestudies.
Additional Activities at IPGMER planned for 2016-2017
1. We are discussing with the Department of Endocrinology, IPGMER, Kolkata for posting of the
DNB students in the Pediatric Endocrinology Out-patient Department, IPGMER and SSKM
Hospital. This posting shall offer access to cases of Turner Syndrome, Neonatal hypothyroidism,
MODY, monogenic obesity, etc.
2. Molecular Tests are being standardized in the Laboratory of Biomedical Genomics Center
(BMGC), Kolkata. These tests shall be offered to the patients of IPGMER and other hospitals in
2016. The DNB Medical Genetics students shall perform these tests and interpret the results
under supervision of the Clinical Molecular Geneticist of BMGC.