About the Department

The department of Medical Genetics at Kasturba Medical College, Manipal has regular teaching and training programs for medical students, genetic counselors and Ph. D scholars in addition to continuing medical education programs.

The department strives to translate recent advances from research in the field of genetics to patient care. The department offers consultation services for patients and families with diverse genetic conditions and birth defects. It also offers the much-needed diagnostic services on its own and in collaboration with other laboratories in India and abroad. Patient care is further supported by genetic counseling on reproductive options and prenatal diagnosis.

The department has a strong focus on research, mostly on rare genetic disorders including disease-gene discovery using the state of the art sequencing technology.

More information on the department and services offered is available at www.kmcmedicalgenetics.in

https://khmanipal.com/medical-genetics/

 

Adjunct Faculty

Dr. Ashwin Dalal, Group Leader, Diagnostics Division

Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India. 

 

Dr. Greet Mortier

Professor, Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.

 

Dr. Kerstin Kutsche

Professor, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

 

Dr. Siddharth Banka

Clinical Senior Lecturer, The University of Manchester, Manchester, UK.

 

 

 

 

Dr. John Carey

Professor, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

 

Dr. William Newman

Professor, Translational Genomic Medicine, The University of Manchester, Manchester, UK.

 

Dr. Madhuri Hegde

Adjunct Professor, Department of Human Genetics, Emory University School of Medicine, Atlanta, USA

 

Alumni

PhD Awarded/Ongoing

 

Sl no

Candidate name

Year

1

Dr Abdul Mueed Bidchol

Ph. D 2016

2

Dr Shalini Nayak

Ph. D 2017

3

Dr Sri Lakshmi Bhavani G

Ph. D 2017

4

Dr Malavika Hebbar

Ph. D 2018

5

Dr Smrithi Raghuram Salian

Ph. D 2018

6

Dr Radhakrishnan Periyasamy

Ph. D 2020

7

Dr Puneeth HS

Ph. D 2021

8

Dr Neethu Krishna K

Ph. D 2021

9

Mr Vishal Singh Guleria

Current

10

Mr Prince Jacob

Current

11

Ms Parneet Kaur

Current

12

Ms Swati Singh

Current

13

Dr Shruti Pande

Current

14

Ms Prajna Udupa

Current

15

Ms Michelle Do Rosario

Current

16

Ms Purvi Majethia

Current

17

Ms Preetiparna Parida

Current

18

Dr Wasiur Rahman Choudhury

Current

19

Mr Vishnu Karthik Khandige

Current

20

Mr Shravya MS

Current

21

Ms Neha Quadri

Current

 

https://manipal.edu/mu/academics/phd.htm

 

l

Services Offered

a.   Consulting

The recent advancement of research and knowledge in the field of medicine has led to the identification of the genetic basis of more and more diseases. The Genetics Clinic run by the Department of Medical Genetics at Kasturba Hospital - Manipal is one of the few centers in the country which provides specialized services to patients and families with genetic disorders. We are committed to providing the best possible care.

Our services include clinical evaluation, genomic testing, management and counseling of patients and families with genetic diseases. As some of these disorders have significant mortality and morbidity and do not have a curative treatment, we also offer prenatal diagnosis to such families. Provision for preconceptional counseling and carrier screening for couples with or without a prior history of genetic disorders in the family is also available. Our team of well-trained, dedicated clinical geneticists, scientists and genetic counselors strive to give accurate and complete information based on the latest scientific knowledge. We put in our best efforts to address the unmet needs and concerns of these patients and provide answers.

Some common genetic diseases seen in our clinic include thalassemia, sickle cell disease, spinal muscular atrophy, Duchenne muscular dystrophy and intellectual disability / developmental delay.

In addition, we provide diagnostic facilities for any rare disorder using the newer diagnostic technologies like microarray and next generation sequencing.

In our endeavor to provide comprehensive genetic services under a single roof, the Genetics Clinic here is supported by a well-equipped laboratory. In collaboration with local, national and international laboratories, we provide state of the art diagnostic facilities for almost all groups of genetic disorders. Patients have an opportunity to participate in ongoing research projects as well.

Consultants

Dr. Girisha K M

Dr. Anju Shukla

Dr. Dhanya Lakshmi N

 

b.   Services available

 I.  Clinical services

(Evaluation, Diagnosis, Counseling, Management and Prenatal Diagnosis)

o    Malformation syndromes

o    Chromosomal abnormalities (Down syndrome, Turner syndrome, Klinefelter syndrome etc.)

o    Genetic anemia (Thalassemia, sickle cell disease, spherocytosis etc.)

o    Intellectual disability/development delay

o    Short stature

o    Skeletal dysplasia

o    Neurodegenerative disorders

o    Myopathies and muscular dystrophies

o    Inborn errors of metabolism including storage disorders

o    Disorders of sexual differentiation (Ambiguous genitalia)

o    Genetic bleeding disorders (hemophilia)

o    Deafness

o    Neural tube defects (anencephaly, meningomyelocele) and other congenital malformations

o    Primary amenorrhea and hypogonadism

o    Infertility

o    Exposure to teratogens during pregnancy

o    Familial cancers

o    Any familial / genetic disorder

o    Consanguinity

II.  Laboratory facilities

o   Karyotyping from blood, tissues, chorionic villi, amniotic fluid and products of conception

o   Quantitative fluorescent PCR (QF-PCR) for rapid detection of aneuploidy in prenatal samples

o   Sanger sequencing for beta thalassemia, sickle cell anemia, achondroplasia, hypochondroplasia and many more single gene disorders

o   MLPA for Duchenne muscular dystrophy, spinal muscular atrophy, common microdeletion syndromes

o   TP-PCR for myotonic dystrophy, Huntington disease, Fragile X syndrome

o   Biochemical testing for inborn errors of metabolism (TMS, GCMS, enzyme assays)

o   Chromosomal / SNP microarray

o   Next generation sequencing (whole exome sequencing / gene panel testing)

III.  Prenatal diagnosis and genetic counseling

o   Aneuploidy screening test (Dual/triple/quadruple marker, non- invasive prenatal screening)

o   Scanning for fetal malformations by ultrasound

o   Chorionic villus sampling

o   Amniocentesis

o   Cordocentesis

IV.  Fetal autopsy

In case of stillbirths of unknown cause and fetuses terminated after ultrasonographic detection of malformations, detailed radiologic study and autopsy helps in providing a definitive diagnosis of the condition. This is useful in identifying the etiology in many cases and counseling the family about the recurrence of the same condition in next pregnancy and offering prenatal diagnosis. Fresh fetuses can be sent to us in saline. Otherwise, fetuses can be sent in 10% formalin (with 2-inch umbilical cord in saline).

 

 

Research

We have a broad network of national and international collaborations with clinicians and scientists. Our research activities are supported by adequate laboratory facilities within the campus, and we are constantly striving to employ new cutting-edge techniques both in research and diagnostics. The department has secured funding from various national and international agencies to carry out research on the molecular and cellular basis of genetic disorders. Research outcomes and findings from the department have been published in numerous high impact factor scientific journals of repute. We also engage with the larger scientific community in India and worldwide through hosting various academic activities, including scientific workshops, seminars and conferences that function not only as continuing medical education programs but allow us to bring together national and international experts to facilitate our scientific expertise and broaden the width of our understanding of genetic diseases.

 

Sl No

Title of the Project

Granting agency

Principal Investigator

Year

Duration of the project

Amount INR

Completed projects

1

Genotype and phenotype correlation of Indian patients with Morquio syndrome"

Indian Council of Medical Research

Dr Girisha KM

2010

03 years

2284306

2

Value of fetal autopsy and establishment of normal fetal radiologic anatomy

Indian Council of Medical Research

Dr Girisha KM

2011

03 Years

1451696

3

Evaluation of multiplex ligation dependent probe amplification (MLPA) for diagnosis and carrier detection in families with a dystrophinopathy

Science and Engineering Research Board

Dr Girisha KM

2012

03 Years

2100000

4

Genetic Diagnosis of Heritable Neurodevelopmental Disorders with Exome Sequencing’

National Institute of Health, USA

Dr Girisha KM

2015

02 Years

8765286

5

Molecular analysis of Filamin B related disorders

Indian Council of Medical Research

Dr Girisha KM

2014

03 Years

1219200

6

Development and application of a next generation sequencing based gene panel for disorders with low bone mineral density

DBT-BMBF

Dr Girisha KM

2014

02 Years

3318500

7

Multicentric Collaborative study of the Clinical Biochemical and Molecular Characterization by Lysosomal Storage Disorders in India – The initiative for research in LSD

Department of Health Research

Dr Girisha KM

2015

03 Years

1543720

8

Clinical and molecular evaluation of inherited arthropathies and multiple vertebral segmentation defects

Indian Council of Medical Research

Dr Girisha KM

2015

03 Years

3406720

9

Application of autozygosity mapping and exome sequencing to identify genetic basis of disorders of skeletal development

Science and Engineering Research Board

Dr Girisha KM

2015

03 Years

3313200

10

Comprehensive analysis of genetic diversity in Waardenburg syndrome

Science and Engineering Research Board

Dr Anju Shukla

2016

03 Years

2160000

11

Clinical and molecular characterization of leukodystrophies in Indian children

Department of Health Research

Dr Anju Shukla

2016

03 Years

4318830

12

Molecular and Functional characterization of novel GLB1 mutations in Indian patients with GM1 gangliosidosis

Science and Engineering Research Board

Dr Anusha U

2015

02 Years

1920000

13

A Systematic evaluation of fetal syndromes

Indian Council of Medical Research

Dr Shalini Nayak

2017

03 Years

1269600

14

Identification of a novel gene responsible for autosomal recessive oculocutaneous albinism using whole exome sequencing

Department of Biotechnology

Dr Solange Lewis

2015

03 Years

4510000

15

Does Postmortem Magnetic Resonance Imaging of Fetal Brain Help in Autopsy?

Indian Council of Medical Research

Dr Girisha KM

2017

03 Years

2486440

16

Investigating the role of IFT52 and EXOC6B in human biology and disease using cell-culture and Drosophila systems

Science and Engineering Research Board

Dr Priyanka U

2017

03 Years

5134733

17

Improving the clinical care of children and young adults with Marfan syndrome and related disorders by molecular genetic testing through next generation sequencing

ICMR-BMBF

Dr Girisha KM

2018

03 Years

3244538

 

Ongoing projects

 

 

 

 

 

18

Genetic diagnosis of neurodevelopmental disorders in India.

National Institute of Health, USA

Dr Anju Shukla

2018

05 Years

73650913

19

Liquid biopsy strategies for early detection and treatment monitoring of Human Papilloma virus associated cancers in INDIA

Department of Biotechnology

Dr Rama Rao Damerla

2019

05 Years

11300000

20

Genomic elucidation of human multiple congenital anomalies

Indian Council of Medical Research

Dr Shruti Pande

2019

05 Years

3900000

21

Investigating the crosstalk between primary cilia and autophagy in chondrogenesis and its modulation by Fibroblast growth factor (FGF) signaling in FGFR3 related skeletal dysplasias in vitro

Indian Council of Medical Research

Dr Priyanka U

2021

03 years

5266800

22

Genetic evaluation of inborn errors of immunity in Indian population

Department of Health Research

Dr SriLakshmi Bhavani

 

03 years

5030550

25

Understanding autoinflammatory disorders through clinical, genomic and functional approaches

DBT/Wellcome Trust India Alliance - early career fellowship

Dr Dhanya Lakshmi

 

05 Years

17270000

27

Center for Rare Disease Diagnosis, Research and Training

India Alliance (DBT/Wellcome Trust)

Dr Girisha KM

 

05 years

130000000

Approved projects

 

 

 

 

 

 

 

23

Deep phenotyping, comprehensive genomic studies and investigations into patho-mechanisms of congenital heart defects

Department of Biotechnology

Dr Shalini Nayak

 

03 years

6460000

24

ICMR Virtual Centre for Molecular Medicine with Focus on Rare Genetic Disorders

Indian Council of Medical Research

Dr Girisha KM

 

05 Years

24550000

26

Establishing genetic counseling and genetic testing for familial and hereditary breast cancers at a tertiary referral center in India

PFIZER

Dr Rama Rao Damerla

 

2.5 Years

5400000

 

 

Publications

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Kaur P, do Rosario MC, Hebbar M, Sharma S, Kausthubham N, Nair K, A S, Bhat Y R, Lewis LES, Nampoothiri S, Patil SJ, Suresh N, Bijarnia Mahay S, Dua Puri R, Pai S, Kaur A, Kc R, Kamath N, Bajaj S, Kumble A, Shetty R, Shenoy R, Kamate M, Shah H, Muranjan MN, Bl Y, Avabratha KS, Subramaniam G, Kadavigere R, Bielas S, Girisha KM, Shukla A. Clin Genet. 2021 Jul 24. doi: 10.1111/cge.14037. Online ahead of print.

PMID: 34302356

 

2.      Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Upadhyai P, Radhakrishnan P, Guleria VS, Kausthubham N, Nayak SS, Superti-Furga A, Girisha KM. Hum Mutat. 2021 Aug;42(8):1005-1014. doi: 10.1002/humu.24235. Epub 2021 Jun 8. PMID: 34057271

 

3.      A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians. Kausthubham N, Shukla A, Gupta N, Bhavani GS, Kulshrestha S, Das Bhowmik A, Moirangthem A, Bijarnia-Mahay S, Kabra M, Puri RD, Mandal K, Verma IC, Bielas SL, Phadke SR, Dalal A, Girisha KM. Hum Mutat. 2021 Apr;42(4):e15-e61. doi: 10.1002/humu.24172. Epub 2021 Mar 1. PMID: 33502066

 

4.      Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. Nayak SS, Schneeberger PE, Patil SJ, Arun KM, Suresh PV, Kiran VS, Siddaiah S, Maiya S, Venkatachalagupta SK, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha KM, Kutsche K. Sci Rep. 2021 Jan 12;11(1):764. doi: 10.1038/s41598-020-80755-7. PMID: 33436942.

 

5.      Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement. Kaur P, Kadavigere R, Girisha KM, Shukla A. Brain. 2020 Apr 1;143(4):e29. doi: 10.1093/brain/awaa046. PMID: 32125366.

 

 

Gallery

 

 

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Faculty

Contact Us

Address:

google map: https://goo.gl/maps/cVGWoLxsejhyNJCP8

Email: genetics.clinic@manipal.edu

Phone:  +91 820 2923419