department of cell biology and molecular genetics of cell biology and molecular genetics: faculty of...

Department of Cell Biology and Molecular Genetics

[Faculty of Allied Health Sciences]

SDUAHER

Contact: [email protected]

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Department of Cell Biology and Molecular Genetics: Faculty of Allied Health Sciences

INTRODUCTION The Department was established in the year 2011 with a specialized genome laboratory for research studies on birth defects. Since then, the Department has grown to include four academic programmes and four major research thrust areas. The facilities of the Department are also used for training of medical graduates and professionals.

VISION “ Creating Knowledge and Skills in Human Genetics, Cell and

Molecular Biology for a Healthy Humanity”

MISSION

• To impart skill based training to create a cadre of globally competent professionals in the area of human genetics, cell and molecular biology.

• To inculcate passion and nurture skills to carryout biomedical research among students, biomedical and healthcare professionals.


OBJECTIVES • To provide advanced infrastructure facilities to the students

to become competent and responsible professionals in the area of human genetics, cell and molecular biology.

• To design courses of innovative and interdisciplinary nature.

• To promote facilities to carry out “Translational Research” by integrating basic and medical sciences.

• To provide sophisticated molecular diagnostic facilities to

understand the molecular basis of diseases.



CAPABILITIES

1. The lab has state-of-the-art facilities to undertake inter-disciplinary research projects of both basic science and translational nature in the area of Genetics, Molecular Biology, Genomics, Proteomics and Cell Biology.

2. The facilities and the faculties of the lab provide a platform for clinicians to undertake rare and complicated research questions which are otherwise unanswerable in a traditional hospital set-up.

3. The lab is equipped with state-of-the-art cytogenetics facility for studying chromosomal abnormalities.

4. The lab has in-house DNA sequencing facility for mutational studies.

5. The facilities of the lab are also utilised to provide free genetic diagnostic tests and professional counselling to the patients.

6. The lab provides experimental facilities for research scholars pursuing Ph.D. and M.Phil. programmes.

7. The lab provides experimental facilities and technical guidance for postgraduate medical students to conduct dissertation projects .

8. The lab supports the training of undergraduate and postgraduate medical students in advanced molecular techniques.

FACULTY

Dr. A.V.M. Kutty Professor & Dean (Faculty of Allied Health Sciences)


Sl. No.

Name Qualification Designation Area of Specialization Research under guidance

1 Dr. P.R. Krishnaswamy

M.Sc. D.Sc. Emeritus Professor Biochemistry and Molecular Biology

M.Phil./Ph.D. Guide

2 Dr Satish Ramachandra Rao M.Sc. Ph.D. Professor & Head Molecular Biology, Proteomics

M.Phil./Ph.D. Guide

3 Dr Mitesh Shetty M.B.B.S. M.Sc. (UK) Ph.D. Assistant Professor Medical Genetics M.Phil./Ph.D. Guide

4 Dr Sharath B. M.Sc. Ph.D. Assistant Professor Molecular Biology M.Phil./Ph.D. Guide

5 Dr Kiranmayee P. M.Sc. Ph.D. Research Associate Molecular Biology

6 Mrs. Divya C. M.Sc. Lecturer Human Genetics & Bioinformatics

7 Mr. Vaigundan D. M.Sc. Lecturer Molecular Biology & Protein Science

8 Mrs. Deepa R. M.Sc. Research Assistant Molecular Biology

9 Ms. Rekhashree M.Sc. Research Assistant Molecular Biology

A) Post Graduate Programme (i) Master of Science in Molecular Biology and Human Genetics [M.Sc.]

B) Post Graduate Diploma Programme (i) Post Graduate diploma in Genomic Technology [P.G.Dip.]

C) M.Phil. Programme (i) Master of Philosophy in Molecular Cell Biology and Medical Genetics [M.Phil.]

D) Ph.D. Programme (i) Ph.D. in Cytogenetics and Molecular Genetics [Ph.D.]

PROGRAMMES OFFERED


1. Cell Culture: (Biosafety Level 2)

● Laminar Air Flow

● CO2 Incubator

● Inverted Microscope Carl Zeiss

2. Cytogenetics:

● Fluorescence Microscope with

automated Karyotyping system Carl Zeiss

● FISH hybridization chamber

3. Molecular Biology:

● Thermal Cyclers for PCR Biorad, Eppendorf

● DNA Sequencer Applied Biosystems 3500

● Electrophoresis Units

● Gel Documentation System Biorad

● -20°C and -80°C Deep Freezer

● UV-Visible Spectrophotometer Perkin Elmer

● Water Purification System Millipore

● Cooling Centrifuge

INFRASTRUCTURE FACILITIES


DNA Sequencer

Karyotyping facility

4. Proteomics/Enzymology: • Chromatography • Electrophoresis • ELISA • Shared cold room facility

5. Phytochemistry:

• Soxlet apparatus • TLC

INFRASTRUCTURE FACILITIES


A. Biomarkers (Dr. Satish Ramachandra Rao)

1.Urinary markers for kidney function (Exosomes. Proteins, Metabolites) 2.Urinary and serum markers for infectious diseases (Dengue, Leptospirosis) 3.Urinary, serum and salivary markers for non-infectious diseases (Oral cancer, Preeclampsia)

B. Genetic Disorders (Dr. Mitesh Shetty , Dr. AVM Kutty) 1. Congenital anomalies in newborn 2. Cardiac defects in children 3. Non Syndromic Hearing loss 4. Chronic Otitis Media 5. Psoriasis 6. Beta-Thalassemia 7. Congenital Ichthyosis 8. Hereditary Multiple Exostosis

C. Protein Science and Enzymology (Dr. PR Krishnaswamy)

1.. Triosephosphate Isomerase from Leptospira interrogans 2.. L-Amino Acid Oxidase from Leptospira interrogans D. Cancer Biology and Pharmacogenomics (Dr. Sharath B.) 1. Oral Squamous Cell Carcinoma 2. Uterine Leiomyoma 3. Warfarin dosage.

THRUST AREAS OF RESEARCH



1. Karyotyping

Referral Reasons:

Dysmorphic features

Mental Retardation

Delayed Development

Recurrent Pregnancy Loss

Amenorrhea

2. Fluorescence In situ Hybridization (FISH)

Downs Syndrome

Turner Syndrome

Klinefelter ‘sSyndrome

1p32 Deletion

3. Molecular test

Beta-Thalassemia

Duchenne Muscular Dystrophy

Spinal Muscular Atrophy

Cystic fibrosis

Hearing Loss (GJB-2 gene)

Congenital Ichthyosis ( TGM-1 gene)

Y Chromosome Markers

DIAGNOSTIC SERVICES

Numerical (34)

Peripheral Blood (348)

Bone Marrow (6)

Chromosomal Abnormality (93)

Single Gene Defect (88)

Structural (4)

Cytogenetic Analysis

Miscellaneous (167)

Edwards Syndrome (1)

Downs Syndrome (27)

Turners Syndrome (6)

Primary Amenorrhea (12)

Other Genetic diseases (46)

Repeated Pregnancy Loss (42)

Multiple Exotosis (9)

Ichthyosis (14)

Retinitis Pigmentosa (9)

Thalassemia (6)

Congenital Deafness (4)

Infertility (6)

DIAGNOSTIC SERVICES

Karyotyping: Downs Syndrome

FISH: Turners Syndrome

Mutation analysis: Hereditary Multiple Exostosis

Patient Profile 2011-2015

UNIVERSTIY FUNDED PROJECTS: COMPLETED


Sl. No.

Project Faculty Outcome

1 Mutational analysis of autosomal Recessive Congenital Ichthyosis with insights into structural and functional relationship of novel transglutaminase-1 mutations

Mr. Vaigundan D, Dr. Krishnaswamy P R, Dr. Kutty A V M.

1. A novel mutation in the

transglutaminase-1 gene in an

autosomal recessive congenital

ichthyosis patient.

Biomed Res Int. 2014;2014:706827

2 Molecular Genetic Investigation on patients suffering from paroxysmal dyskinesias and benign familial infantile epilepsy

Dr. Prabhakara S, Dr. Kutty A VM

1.

Molecular analysis of PRRT2 gene in

a case of Paroxysmal Kinesiegenic

dyskinesia patient. Ann Indian Acad

Neurol.2014 Oct;17(4):459-462.

3 Molecular genetic studies on Hereditary Multiple Exostoses Cases.

Ms. Malini K Dr. Gudi N S, Dr. Kutty A V M, Dr. Prasad CSBR

1.

Multiple Hereditary Exostoses in a

Family for Three Generation of

Indian Origin with Review of

Literature. J Clin Diagn Res.2014

Oct;8(10):LD01-LD03.

2.

Mutational Analysis of Exostosin 1

and 2 Genes in Multiple

Osteochondroma. Indian J

Pediatr.2015 Jul;82(7):649-50.

UNIVERSTIY FUNDED PROJECTS: IN-PROGRESS

* Ethical Clearance awaited. Preliminary studies underway.


Sl. No.

Project Faculty

1 Screening of congenital malformations in a tertiary care hospital Mrs.Divya C, Dr. Krishnappa J, Dr. Kutty A V M

2 Development of a rapid, cost-effective and non-invasive method for detection of HPV as a causative agent in cervical and head and neck dysplasia.

Dr. Kayvan, Dr. Ranganath BG, Dr. Narayanaswamy M, Dr. Azeem MSM, Dr. Gomathi, Divya B

3 Genomic information driven investigation of nutritional requirement of Leptospira.

Mr. Vaigundan D, Dr. Krishnaswamy P R, Dr. Kutty A V M, Dr. Prasad S R.

4 Evaluation of functional integrity of GH-IGF axis parameters in children of age group of 3-6 years in Kolar District. Studies based on nutritional and environmental perspectives.

Mrs. Deepa R, Dr. Kutty A V M, Dr. Ranganath B G, Dr. Beeregowda.

5 Evaluation of polymorphism in TNF-a and CARD 14 genes in Psoriasis. Mrs. Deepa R, Dr. Rajesh G, Dr. Kutty A V M, Dr. Sharath. B

6 Occurrence of mutations in Nuclear Localization Signal motif of p53 protein in Oral Squamous Cell Carcinoma. *

Deepa R, Dr. Sharath B, Dr. Azeem MSM, Dr. Prasad CSBR

7 Screening and molecular characterization of Beta-Thalassemia in anemic pregnant women. *

Dr. Shetty M, Dr. Sharath B, Mrs. Divya B, Dr. Pushpa K

8 Novel pre-eclampsia Biomarkers in Urinary and serum exosomes* Dr. Satish Ramachandra Rao, Dr. A.V.M Kutty

9 Estimation of total sialic acid in serum and urine, and the sialic acid associated with Urinary Tamm-Horsfall Protein in patients across multiple disease conditions and in healthy individuals.*

Dr. Satish Rao, Dr. AVM Kutty, Dr. Sreeramulu

10 Novel Urinary and Serum Exosome Biomarkers of Acute Kidney Injury in Gastroenteritis Background.

Dr. SatishRamachandra Rao, Dr. B.N. Raghavendra Prasad.

2012 Krishnaswamy PR, Kutty AV. A Pursuit without Boundaries” Nobel Prizes on Physiology, Medicine and Chemistry. J Clin Biomed Sci. 2012; 2(4): 157-161. Krishnaswamy PR, Kutty AV. Systems Medicine: Dawn of a New Era in Biomedical Science. J Clin Biomed Sci. 2012; 2(4) :162-166. Krishnappa J.Krishnaswamy PR. Kadandale JS, Dhanajaya CD. Familial fanconi anemia with bowed and dysplastic right ulna bilateral thumb aplasia: a case report. Int. J of Advanced Biol Research. 2012;3(1): 1447-1449. Krishnappa J Harshavardhana S.Prabhakara S Divya C. Hoffmann disease [spinal muscular atrophy type 1 very severe form]-a case report. Int. J of Advanced Biol Research. 2012; 2(1):153-155. 2013 Prasad KN, Rajha A, Vegi PK. A case of monozygotic twins: The value of discordant monozygotic twins in Goldenhar syndrome. Case Rep Pediatr. 2013;2013:591350. 2014 Gayathri BN, Sagayaraj A, Prabhakara S, Suresh TN, Shuaib M, Mohiyuddin SM. Papillary Thyroid Carcinoma in a 5-year old child-Case Report. Indian J Surg Oncol. 2014 Dec;5(4):321-324. Vaigundan D, Kalmankar NV, Krishnappa J, Gowda NY, Kutty AV, Krishnaswamy PR. A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. Biomed Res Int. 2014;2014:706827 Kalyani R, Prabhakar K, Gopinath B, Sheik Naseer B, Krishnamurthy DS. Multiple Hereditary Exostoses in a Family for Three Generation of Indian Origin with Review of Literature(Case Report). J Clin Diagn Res.2014 Oct;8(10):LD01-LD03.

PUBLICATIONS


2015 Vanilla S, Dayanand CD, Kotur PF, Kutty AV, Vegi PK. Evidence of Paternal N5N10 Methylenetetrahydrofolate reductase (MTHFR C677T) gene polymorphism in couples with Recurrent Spontaneous Abortions in Kolar district, A south west of India. J Clin Diagn Res. 2015 Feb;9(2):BC15-BC18. Malini K, Gudi NS , Kutty AV, Sharath B. Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. Indian J Pediatr.2015 Jul;82(7):649-50. Prabhakara S, Anbazhagan K. Molecular analysis of PRRT2 gene in a case of Paroxysmal Kinesiegenic dyskinesia patient (Case Report). Ann Indian Acad Neurol.2014 Oct;17(4):459-462. Bose D, Krishnamurthy V, Venkatesh KS, Aiyaz M, Shetty M, Rao SN, Kutty AV. Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a patient with dysmorphic features, Heart Defect and Developmental Delay. Cytogenet Genome Res.2015;145(1):14-18.


1. Vaigundan D, Neha VK, Krishnappa J, Yellappa Gowda N, Kutty AVM, Krishnaswamy PR. A novel mutation in the

Transglutaminase-1 gene in a autosomal recessive congenital ichthyosis patient. Biomedical Research International, 2014: DOI 10.1155/2014/706827.

2. Prabhakara S, Kolandaswamy A. Molecular analysis of PRRT2 gene in a case of Paroxysmal Kinesigenic dyskinesia patient (Case Report). Annals of Indian Academy of Neurology.2015: 17(4). DOI 10.4103/0972-2327-144039.

3. Malini K, Gudi NS , Kutty AVM , Sharath B. Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. Indian Journal of Paediatrics.2015: DOI 10.1007/s12098-014-1675-1

4. Bose D, Krishnamurthy V, Venkatesh KS, Aiyaz M, Rao SN, Shetty M, Kutty AVM. Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a patient with dysmorphic features, Heart Defect and Developmental Delay. Cytogenetic and Genome Research. 2015: DOI; 10,1159/000381294.

PRIZED PUBLICATIONS


NEW KNOWLEDGE GENERATED


NOVEL MUTATIONS REPORTED FOR THE FIRST TIME

1.Vaigundan D, Kalmankar NV, Krishnappa J, Gowda YN, Kutty AVM, Krishnaswamy PR. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient. 2014 Bio Med Research International; 2014: article ID 706827. Significance: The study resulted in the discovery of a novel mutation not reported before from any part of the world. 2. Bose D, Krishnamurthy V, Venkatesh KS, Aiyaz M, Rao SN, Shetty M, Kutty AVM. Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a patient with dysmorphic features, Heart Defect and Developmental Delay. Cytogenetic and Genome Research- 2015; DOI; 10,1159/000381294. Significance: The study resulted in the discovery of a novel chromosomal aberration not reported before from any part of the world. 3. Malini K, Gudi NS, Kutty AVM, Balakrishna S. Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. Indian Journal of Paediatrics 2014: DOI; 10.1007/s12098-014-1675-1. Significance: The discovered mutation was not reported from India prior to this study. This study highlighted the mutational hotspot nature of the locus.

• State of the art facilities for cytogenetics

• Facilities for mutational analysis (Multiple exostosis, DMD, Ichthyosis etc)

• Diagnostic molecular biology (Beta thalassemia, DMD, Y chromosome)

• Clinical support for training of students for biomedical research

• Industry institution collaborations : Genotypic Pvt. Technologies, Bangalore

STRENGTHS OF THE DEPARTMENT



GOVERNANCE

The Department of Cell Biology and Molecular Genetics is directly under the control of the University. Head of the Department is the Administrative Chief of the Department.

Dean: Faculty of Allied Health Sciences

HOD

Teaching Faculty Research Staff and Scholars Non-Teaching Staff


TRAINING OF STUDENTS FROM OTHER FACULTY/DEPARTMENT

1. Rotational Posting of Post-Graduate Medical Students from SDUMC

Student background

Topic

Remarks

M.D. Microbiology PCR Technique 8 students trained since 2012

M.D. Pharmacology Pharmacogenomics 12 students trained since 2012

2. Support for Medical PG Dissertation

M.D. Pharmacology

1 student (2015-2016) pursuing dissertation project on pharmacogenomics

3. UG Training Activities

UG Medical Students The lab conducts a short demonstration of concepts and techniques in genetics and molecular

biology for UG medical students during the undergraduate pre-conference workshop

DEMEDCON (2014, 2015).

UG students from other Universities

18 B.Sc. Genetics students from Vijaya College, Bangalore University trained on 15 Sep 2015

• To establish a National Training Centre for Cytogenetics and Molecular Genetics for medical staff with the support of ICMR.

• To start B.Sc. Human Biology programme with the support of the Medical College.

• To start integrated M.Sc. Ph.D. programme in the subject of Molecular Cell Biology and Human Genetics.

• To support Fetal Medicine with diagnostics and genetic counselling services and collaborative research.

• To become a centre for excellence in teaching, learning, and research particularly in the area of genomics and proteomics research.

• To introduce choice based credit system.

FUTURE PLANS


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