सीएसआईआर - कोशिकीय एवं आणविक जीवविज्ञान केन्द्र
भारत का इनोवेशन इंजन
कार्तिक भारद्वाज
वैज्ञानिक
मेडिकल जेनेटिक्स
04027192613/5505
karthikt[at]ccmb[dot]res[dot]in
शोध में रुचि
अनुक्रमण तकनीकों में तेज़ी से हो रही प्रगति के साथ, मानव स्वास्थ्य और रोगों पर जीनोमिक्स के प्रभाव को समझना अब और भी ज़्यादा संभव होता जा रहा है। हमारी प्रयोगशाला अति-दुर्लभ आनुवंशिक विकारों/सिंड्रोमों के एटियोपैथोजेनेसिस की पहचान और समझ में इस प्रगति का लाभ उठाने का इरादा रखती है। इस संदर्भ में, हम वर्तमान में DPH2 और CHFR जीन में उत्परिवर्तन के कारण होने वाले अति-दुर्लभ आनुवंशिक सिंड्रोमों पर काम कर रहे हैं। संक्षेप में, संभावित रोगजनक भिन्नता की पहचान NGS विश्लेषण द्वारा की जाती है और फिर कोशिका रेखाओं और पशु मॉडलों में कार्यात्मक परख का उपयोग करके कार्य-कारण संबंध स्थापित किया जाता है। इसके अतिरिक्त, हमारी प्रयोगशाला जीनोम इंडिया, भारतीय स्तन कैंसर जीनोम एटलस और जन स्वास्थ्य से संबंधित विभिन्न संक्रामक रोग जीनोमिक्स परियोजनाओं जैसी विविध परियोजनाओं पर भी काम करती है।
चयनित प्रकाशन
तल्लापका के वेणुगोपाल वी, दलाल ए, अग्रवाल एस. नवीन आरएसपीओ1 उत्परिवर्तन जो पामोप्लांटर केराटोडर्मा के साथ 46,XX वृषण लिंग विकास विकार का कारण बनता है: साहित्य की समीक्षा और नैदानिक फेनोटाइप का विस्तार। अमेरिकन जर्नल ऑफ मेड जेनेटिक्स, भाग ए. 2018;176:1006–1010
विनीत वी.एस., दत्ता यू.आर., तल्लापका के., दास भौमिक ए., दलाल ए. संपूर्ण एक्सोम अनुक्रमण से वैश्विक विकासात्मक विलंब, माइक्रोसेफली और दौरे से ग्रस्त एक रोगी में 14q12 क्षेत्र में एक नए 5MB विलोपन की पहचान हुई। जीन। 2018 अक्टूबर 5;673:56-60
तल्लापका के, अग्रवाल एस, भट्टाचार्जी ए, दास भौमिक ए, दलाल ए. भ्रूण में लेबर कॉन्जेनिटल अमोरोसिस और मेकेल सिंड्रोम टाइप 1 की सह-उपस्थिति: क्या इससे कोई सबक सीखा जा सकता है? मोल सिंड्रोमोल. 2019 मई;10(3):177-182.
तल्लापका के, रंगनाथ पी, रामचंद्रन ए, उप्पिन एमएस, पेराला एस, अग्रवाल एस, लक्ष्मी डी, मीना ए.के., दलाल ए.बी. दक्षिण भारत के एक तृतीयक देखभाल केंद्र में ड्यूचेन मस्कुलर डिस्ट्रॉफी फेनोटाइप से पीड़ित रोगियों का आणविक और ऊतक-विकृति विज्ञान संबंधी लक्षण वर्णन। भारतीय बाल रोग विशेषज्ञ। 2019 जुलाई 15;56(7):556-559।
उदय किरण, सी जी गोकुलन, संतोष कुमार कूंचा, धिविया वेदगिरि, बिंगी त्रिलोक चंदर, एडुला विनय शेखर, सुचित्रा डोंटामाला, अराकातला लोहित रेड्डी, कार्तिक भारद्वाज तल्लपका, राकेश के मिश्रा, कृष्णन हरिनिवास हर्षन, निदान को आसान बनाना और SARS-CoV-2 का पता लगाने की सीमा को आगे बढ़ाना, जीव विज्ञान के तरीके और प्रोटोकॉल, bpaa017, https://doi.org/10.1093/biomethods/bpaa017
शिक्षा और अनुभव
स्नातकोत्तर:
एमडी पीडियाट्रिक्स; उस्मानिया मेडिकल कॉलेज। डॉ. एनटीआर यूनिवर्सिटी ऑफ हेल्थ साइंसेज; 2014
पोस्ट डॉक्टरेट:
एनआईएमएस/सीडीएफडी, राष्ट्रीय परीक्षा बोर्ड; डीएनबी मेडिकल जेनेटिक्स; 2018
टीम सदस्य
Karthik Bharadwaj
Scientist-D
Tippabathani Jayakrishna
Scientist-C
Tulasi Nagabandi
Sr. Technical Officer(2)
M K Kanakavalli
Sr. Technical Officer(2)
Harichandan Goud Nerella
Junior Research Fellow
Pranjal verma
Junior Research Fellow
Chandreswara Raju Kataru
Project Scientist - I
Aneek Das Bhowmik
Senior Analyst
Payel Mukherjee
Research Assistant
Vislavath Jyothi
Scientific Associate - I
Jandhyala Sai Krishna
Analyst Level - I
A Parvathi
Front Office Executive
प्रकाशन
शीर्षक
पत्रिका
वर्ष
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum
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A machine learning-based approach to determine infection status in recipients of BBV152 (Covaxin) whole-virion inactivated SARS-CoV-2 vaccine for serological surveys
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SARS-CoV-2 B. 1.617. 2 Delta variant replication and immune evasion
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SARS-CoV-2 seroprevalence in the city of Hyderabad, India in early 2021
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Genomic characterization and epidemiology of an emerging SARS-CoV-2 variant in Delhi, India
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Evidence of SARS-CoV-2 reinfection without mutations in Spike protein.
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Host transcriptional response to SARS-CoV-2 infection in COVID-19 patients
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Insights from a Pan India Sero-Epidemiological survey (Phenome-India Cohort) for SARS-CoV2
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Effectiveness of REGEN-COV antibody cocktail against the B.1.617.2 (delta) variant of SARS-CoV-2: A cohort study
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Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario
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Easing diagnosis and pushing the detection limits of SARS-CoV-2
Biology Methods and Protocols, , bpaa017, https://doi.org/10.1093/biomethods/bpaa017
2020
Molecular and histopathological characterization of patients presenting with the Duchenne muscular dystrophy phenotype in a tertiary care center in Southern India
Indian Pediatr. 2019 Jul 15;56(7):556-559.
2019
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?
Mol Syndromol. 2019 May;10(3):177-182.
2019
Whole exome sequencing identifies a novel 5MB deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Gene. 2018 Oct 5;673:56-60
2018
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Am J Med Genet Part A. 2018;176:1006–1010
2018
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2018
An unexpected cause of microcephaly in a child with leukodystrophy.
Genetic Clinics 2017;10 (1): 7-11.
2017
Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome
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2017
A Study of Serum ADA Levels and its Prognostic Value in Childhood Tuberculosis.
Journal of Evolution of Medical and Dental Sciences 2014; vol. 3, Issue 22, June 02; Page: 6119-6125, DOI: 10.14260/jemds/2014/2711
2014
Impact of invasive spotted deer (Axis axis) on tropical island lizard communities in the Andaman archipelago
Biological Invasions
2015
Detection of SARS-CoV-2 in the air in Indian hospitals and houses of COVID-19 patients.
Journal of Aerosol Science.
2022
A distinct phylogenetic cluster of Indian severe acute respiratory syndrome coronavirus 2 isolates
Open forum infectious diseases
2020
Detection of SARS-CoV-2 in the air in Indian hospitals and houses of COVID-19 patients.
Journal of Aerosol Science.
2022
Detection of SARS-CoV-2 in the air in Indian hospitals and houses of COVID-19 patients.
Journal of Aerosol Science.
2022
Impact of invasive spotted deer (Axis axis) on tropical island lizard communities in the Andaman archipelago
Biological Invasions
2015
Impact of invasive spotted deer (Axis axis) on tropical island lizard communities in the Andaman archipelago
Biological Invasions
2015
A Study of Serum ADA Levels and its Prognostic Value in Childhood Tuberculosis.
Journal of Evolution of Medical and Dental Sciences 2014; vol. 3, Issue 22, June 02; Page: 6119-6125, DOI: 10.14260/jemds/2014/2711
2014
A Study of Serum ADA Levels and its Prognostic Value in Childhood Tuberculosis.
Journal of Evolution of Medical and Dental Sciences 2014; vol. 3, Issue 22, June 02; Page: 6119-6125, DOI: 10.14260/jemds/2014/2711
2014
Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome
Indian Pediatr. 2017; 54: 681 – 683.
2017
Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome
Indian Pediatr. 2017; 54: 681 – 683.
2017
An unexpected cause of microcephaly in a child with leukodystrophy.
Genetic Clinics 2017;10 (1): 7-11.
2017
An unexpected cause of microcephaly in a child with leukodystrophy.
Genetic Clinics 2017;10 (1): 7-11.
2017
Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy.
Neurol India 2018;66:1812-4
2018
Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy.
Neurol India 2018;66:1812-4
2018
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Am J Med Genet Part A. 2018;176:1006–1010
2018
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
Am J Med Genet Part A. 2018;176:1006–1010
2018
Whole exome sequencing identifies a novel 5MB deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Gene. 2018 Oct 5;673:56-60
2018
Whole exome sequencing identifies a novel 5MB deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Gene. 2018 Oct 5;673:56-60
2018
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?
Mol Syndromol. 2019 May;10(3):177-182.
2019
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?
Mol Syndromol. 2019 May;10(3):177-182.
2019
Molecular and histopathological characterization of patients presenting with the Duchenne muscular dystrophy phenotype in a tertiary care center in Southern India
Indian Pediatr. 2019 Jul 15;56(7):556-559.
2019
Molecular and histopathological characterization of patients presenting with the Duchenne muscular dystrophy phenotype in a tertiary care center in Southern India
Indian Pediatr. 2019 Jul 15;56(7):556-559.
2019
Easing diagnosis and pushing the detection limits of SARS-CoV-2
Biology Methods and Protocols, , bpaa017, https://doi.org/10.1093/biomethods/bpaa017
2020
Easing diagnosis and pushing the detection limits of SARS-CoV-2
Biology Methods and Protocols, , bpaa017, https://doi.org/10.1093/biomethods/bpaa017
2020
Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario
Frontiers in Immunology
2020
Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario
Frontiers in Immunology
2020
Effectiveness of REGEN-COV antibody cocktail against the B.1.617.2 (delta) variant of SARS-CoV-2: A cohort study
Journal of Internal Medicine
2021
Effectiveness of REGEN-COV antibody cocktail against the B.1.617.2 (delta) variant of SARS-CoV-2: A cohort study
Journal of Internal Medicine
2021
Insights from a Pan India Sero-Epidemiological survey (Phenome-India Cohort) for SARS-CoV2
eLife
2021
Insights from a Pan India Sero-Epidemiological survey (Phenome-India Cohort) for SARS-CoV2
eLife
2021
Host transcriptional response to SARS-CoV-2 infection in COVID-19 patients
Clinical and translational medicine
2021
Host transcriptional response to SARS-CoV-2 infection in COVID-19 patients
Clinical and translational medicine
2021
Evidence of SARS-CoV-2 reinfection without mutations in Spike protein.
Clinical Infectious Diseases
2021
Evidence of SARS-CoV-2 reinfection without mutations in Spike protein.
Clinical Infectious Diseases
2021
Genomic characterization and epidemiology of an emerging SARS-CoV-2 variant in Delhi, India
Science
2021
Genomic characterization and epidemiology of an emerging SARS-CoV-2 variant in Delhi, India
Science
2021
SARS-CoV-2 seroprevalence in the city of Hyderabad, India in early 2021
IJID Regions
2021
SARS-CoV-2 seroprevalence in the city of Hyderabad, India in early 2021
IJID Regions
2021
SARS-CoV-2 B. 1.617. 2 Delta variant replication and immune evasion
Nature
2021
SARS-CoV-2 B. 1.617. 2 Delta variant replication and immune evasion
Nature
2021
A machine learning-based approach to determine infection status in recipients of BBV152 (Covaxin) whole-virion inactivated SARS-CoV-2 vaccine for serological surveys
Computers in Biology and Medicine
2022
A machine learning-based approach to determine infection status in recipients of BBV152 (Covaxin) whole-virion inactivated SARS-CoV-2 vaccine for serological surveys
Computers in Biology and Medicine
2022
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum
AJMG Part A
2022
Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum
AJMG Part A
2022