Fellowship & Membership

  • Short term Fellowship-Medical Genetics, York Hill Hospital, Glasgow, U.K.
  • Indian Society of Human Genetics (ISHG).
  • Indian Academy of Paediatrics-Genetics Specialty Chapter.
  • Bangalore Society of Obstetrics & Gynaecology.
  • Indian Society of Inborn Errors of Metabolism.
  • Indian Society of Prenatal Diagnosis & Therapy.
  • Languages Spoken

  • English
  • Hindi
  • Kannada
  • Tulu
  • Field of Expertise

  • Over 16 years of extensive experience in the field of Medical Genetics Prenatal diagnosis & Genetic counseling
  • Genetic diagnosis of Down syndrome, Autism, β-Thalassemia, Haemophilia, Duchenne muscular dystrophy (DMD) & Spinal muscular atrophy (SMA) etc.
  • Genetic counseling in consanguinity, recurrent abortions, Infertility, Pre- implantation Genetic Screening Test (PGT), Non-Invasive Prenatal Screening (NIPT/NIPS)
  • Expertise in Karyotyping, FISH study, Double/Quadruple study, Chromosomal Microarray & Next Generation Sequencing (NGS)
  • Risk assessment in hereditary cancer disorders like Breast & Ovarian cancer
  • Awards & Achievements

  • Faculty for a Certificate course in Genetic Counselling (MAHE).
  • Recognized Guide for PhD in Manipal Academy of Higher Education (MAHE).
  • Guided PhD, M.Phil & MSc students & trained students for Genetic counselling.
  • Received IBM Sponsorship of CAS Project expenses towards clinical research.
  • Conducted a public awareness program on World Thalassemia Day (May 18) & World Down syndrome day (Mar 19).
  • Organized CME on “Integrating Genomics into Clinical Practice” (Jul 18) & “Autism awareness day” (Apr 19).
  • Published papers in National & International journal & CHAPTER IN BOOK-“Genetics in Congenital Heart Disease” In “A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey)” Jaypee brothers, ISBN 978-93-5090-267-7
  • Talks & Publications

  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, Bangalore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.
  • Shetty, M., Balakrishna, S. & Hegde, S. Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India. Indian J Hematol Blood Transfus (2019) doi:10.1007/s12288-019-01206-6- Click Here
  • A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability Click Here
  • A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders Click Here
  • Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers. Click Here
  • Pre- and Postnatal Diagnosis of 5q35.1 and 8p23.1 Deletion in Congenital Heart Disease. Click Here
  • Freeman- Sheldon syndrome-Prenatal & Postnatal diagnosis Click Here
  • Novel Glioblastoma Markers with Diagnostic and Prognostic Value Identified through Transcriptome Analysis. Click Here
  • Upregulation of ASCL1 and inhibition of Notch signaling Pathway characterize Progressive Astrocytoma Click Here
  • CHAPTER IN BOOK-Genetics in Congenital Heart Disease In A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey) Click Here
  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, B’lore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.

    Languages Spoken

  • English
  • Hindi
  • Kannada
  • Tulu
  • Fellowship & Membership

  • Short term Fellowship-Medical Genetics, York Hill Hospital, Glasgow, U.K.
  • Indian Society of Human Genetics (ISHG).
  • Indian Academy of Paediatrics-Genetics Specialty Chapter.
  • Bangalore Society of Obstetrics & Gynaecology.
  • Indian Society of Inborn Errors of Metabolism.
  • Indian Society of Prenatal Diagnosis & Therapy.
  • Field of Expertise

  • Over 16 years of extensive experience in the field of Medical Genetics Prenatal diagnosis & Genetic counseling
  • Genetic diagnosis of Down syndrome, Autism, β-Thalassemia, Haemophilia, Duchenne muscular dystrophy (DMD) & Spinal muscular atrophy (SMA) etc.
  • Genetic counseling in consanguinity, recurrent abortions, Infertility, Pre- implantation Genetic Screening Test (PGT), Non-Invasive Prenatal Screening (NIPT/NIPS)
  • Expertise in Karyotyping, FISH study, Double/Quadruple study, Chromosomal Microarray & Next Generation Sequencing (NGS)
  • Risk assessment in hereditary cancer disorders like Breast & Ovarian cancer
  • Awards & Achievements

  • Faculty for a Certificate course in Genetic Counselling (MAHE).
  • Recognized Guide for PhD in Manipal Academy of Higher Education (MAHE).
  • Guided PhD, M.Phil & MSc students & trained students for Genetic counselling.
  • Received IBM Sponsorship of CAS Project expenses towards clinical research.
  • Conducted a public awareness program on World Thalassemia Day (May 18) & World Down syndrome day (Mar 19).
  • Organized CME on “Integrating Genomics into Clinical Practice” (Jul 18) & “Autism awareness day” (Apr 19).
  • Published papers in National & International journal & CHAPTER IN BOOK-“Genetics in Congenital Heart Disease” In “A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey)” Jaypee brothers, ISBN 978-93-5090-267-7
  • Talks & Publications

  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, Bangalore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.
  • Shetty, M., Balakrishna, S. & Hegde, S. Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India. Indian J Hematol Blood Transfus (2019) doi:10.1007/s12288-019-01206-6- Click Here
  • A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability Click Here
  • A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders Click Here
  • Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers. Click Here
  • Pre- and Postnatal Diagnosis of 5q35.1 and 8p23.1 Deletion in Congenital Heart Disease. Click Here
  • Freeman- Sheldon syndrome-Prenatal & Postnatal diagnosis Click Here
  • Novel Glioblastoma Markers with Diagnostic and Prognostic Value Identified through Transcriptome Analysis. Click Here
  • Upregulation of ASCL1 and inhibition of Notch signaling Pathway characterize Progressive Astrocytoma Click Here
  • CHAPTER IN BOOK-Genetics in Congenital Heart Disease In A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey) Click Here
  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, B’lore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.

    Field of Expertise

  • Over 16 years of extensive experience in the field of Medical Genetics Prenatal diagnosis & Genetic counseling
  • Genetic diagnosis of Down syndrome, Autism, β-Thalassemia, Haemophilia, Duchenne muscular dystrophy (DMD) & Spinal muscular atrophy (SMA) etc.
  • Genetic counseling in consanguinity, recurrent abortions, Infertility, Pre- implantation Genetic Screening Test (PGT), Non-Invasive Prenatal Screening (NIPT/NIPS)
  • Expertise in Karyotyping, FISH study, Double/Quadruple study, Chromosomal Microarray & Next Generation Sequencing (NGS)
  • Risk assessment in hereditary cancer disorders like Breast & Ovarian cancer
  • Fellowship & Membership

  • Short term Fellowship-Medical Genetics, York Hill Hospital, Glasgow, U.K.
  • Indian Society of Human Genetics (ISHG).
  • Indian Academy of Paediatrics-Genetics Specialty Chapter.
  • Bangalore Society of Obstetrics & Gynaecology.
  • Indian Society of Inborn Errors of Metabolism.
  • Indian Society of Prenatal Diagnosis & Therapy.
  • Languages Spoken

  • English
  • Hindi
  • Kannada
  • Tulu
  • Awards & Achievements

  • Faculty for a Certificate course in Genetic Counselling (MAHE).
  • Recognized Guide for PhD in Manipal Academy of Higher Education (MAHE).
  • Guided PhD, M.Phil & MSc students & trained students for Genetic counselling.
  • Received IBM Sponsorship of CAS Project expenses towards clinical research.
  • Conducted a public awareness program on World Thalassemia Day (May 18) & World Down syndrome day (Mar 19).
  • Organized CME on “Integrating Genomics into Clinical Practice” (Jul 18) & “Autism awareness day” (Apr 19).
  • Published papers in National & International journal & CHAPTER IN BOOK-“Genetics in Congenital Heart Disease” In “A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey)” Jaypee brothers, ISBN 978-93-5090-267-7
  • Talks & Publications

  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, Bangalore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.
  • Shetty, M., Balakrishna, S. & Hegde, S. Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India. Indian J Hematol Blood Transfus (2019) doi:10.1007/s12288-019-01206-6- Click Here
  • A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability Click Here
  • A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders Click Here
  • Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers. Click Here
  • Pre- and Postnatal Diagnosis of 5q35.1 and 8p23.1 Deletion in Congenital Heart Disease. Click Here
  • Freeman- Sheldon syndrome-Prenatal & Postnatal diagnosis Click Here
  • Novel Glioblastoma Markers with Diagnostic and Prognostic Value Identified through Transcriptome Analysis. Click Here
  • Upregulation of ASCL1 and inhibition of Notch signaling Pathway characterize Progressive Astrocytoma Click Here
  • CHAPTER IN BOOK-Genetics in Congenital Heart Disease In A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey) Click Here
  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, B’lore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.

    Awards & Achievements

  • Faculty for a Certificate course in Genetic Counselling (MAHE).
  • Recognized Guide for PhD in Manipal Academy of Higher Education (MAHE).
  • Guided PhD, M.Phil & MSc students & trained students for Genetic counselling.
  • Received IBM Sponsorship of CAS Project expenses towards clinical research.
  • Conducted a public awareness program on World Thalassemia Day (May 18) & World Down syndrome day (Mar 19).
  • Organized CME on “Integrating Genomics into Clinical Practice” (Jul 18) & “Autism awareness day” (Apr 19).
  • Published papers in National & International journal & CHAPTER IN BOOK-“Genetics in Congenital Heart Disease” In “A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey)” Jaypee brothers, ISBN 978-93-5090-267-7
  • Fellowship & Membership

  • Short term Fellowship-Medical Genetics, York Hill Hospital, Glasgow, U.K.
  • Indian Society of Human Genetics (ISHG).
  • Indian Academy of Paediatrics-Genetics Specialty Chapter.
  • Bangalore Society of Obstetrics & Gynaecology.
  • Indian Society of Inborn Errors of Metabolism.
  • Indian Society of Prenatal Diagnosis & Therapy.
  • Languages Spoken

  • English
  • Hindi
  • Kannada
  • Tulu
  • Field of Expertise

  • Over 16 years of extensive experience in the field of Medical Genetics Prenatal diagnosis & Genetic counseling
  • Genetic diagnosis of Down syndrome, Autism, β-Thalassemia, Haemophilia, Duchenne muscular dystrophy (DMD) & Spinal muscular atrophy (SMA) etc.
  • Genetic counseling in consanguinity, recurrent abortions, Infertility, Pre- implantation Genetic Screening Test (PGT), Non-Invasive Prenatal Screening (NIPT/NIPS)
  • Expertise in Karyotyping, FISH study, Double/Quadruple study, Chromosomal Microarray & Next Generation Sequencing (NGS)
  • Risk assessment in hereditary cancer disorders like Breast & Ovarian cancer
  • Talks & Publications

  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, Bangalore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.
  • Shetty, M., Balakrishna, S. & Hegde, S. Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India. Indian J Hematol Blood Transfus (2019) doi:10.1007/s12288-019-01206-6- Click Here
  • A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability Click Here
  • A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders Click Here
  • Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers. Click Here
  • Pre- and Postnatal Diagnosis of 5q35.1 and 8p23.1 Deletion in Congenital Heart Disease. Click Here
  • Freeman- Sheldon syndrome-Prenatal & Postnatal diagnosis Click Here
  • Novel Glioblastoma Markers with Diagnostic and Prognostic Value Identified through Transcriptome Analysis. Click Here
  • Upregulation of ASCL1 and inhibition of Notch signaling Pathway characterize Progressive Astrocytoma Click Here
  • CHAPTER IN BOOK-Genetics in Congenital Heart Disease In A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey) Click Here
  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, B’lore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.

    Talks & Publications

  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, Bangalore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.
  • Shetty, M., Balakrishna, S. & Hegde, S. Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India. Indian J Hematol Blood Transfus (2019) doi:10.1007/s12288-019-01206-6- Click Here
  • A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability Click Here
  • A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders Click Here
  • Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers. Click Here
  • Pre- and Postnatal Diagnosis of 5q35.1 and 8p23.1 Deletion in Congenital Heart Disease. Click Here
  • Freeman- Sheldon syndrome-Prenatal & Postnatal diagnosis Click Here
  • Novel Glioblastoma Markers with Diagnostic and Prognostic Value Identified through Transcriptome Analysis. Click Here
  • Upregulation of ASCL1 and inhibition of Notch signaling Pathway characterize Progressive Astrocytoma Click Here
  • CHAPTER IN BOOK-Genetics in Congenital Heart Disease In A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey) Click Here
  • Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, Sep 19
  • Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, Sep 19
  • Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, B’lore, Dec 18.
  • Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
  • Genetic Counseling Training with special emphasis on Prenatal, Postnatal Diagnosis & Reproductive Genetics” conducted at Ramaiah Medical College, Feb 18.
  • Indications & counselling for PGD & PGS” in the PGS workshop at IAEHC, Dr. Sulochana Gunasheela Memorial Conference, Oct 17.
  • Genetics of Recurrent Implantation Failures & Recurrent Pregnancy loss” Organized by Milann IVF centre Jun 17.
  • GENES AS TARGET IN CANCER” in Pharmacogenomics, SDUMC, Kolar, Aug 16.
  • Biochemical Screening in Pregnancy” in CME on ‘‘Laboratories’ Perspective on Women’s Health” organized by St. John’s Medical College & RGUHS, Nov 15.
  • Awards & Achievements

  • Faculty for a Certificate course in Genetic Counselling (MAHE).
  • Recognized Guide for PhD in Manipal Academy of Higher Education (MAHE).
  • Guided PhD, M.Phil & MSc students & trained students for Genetic counselling.
  • Received IBM Sponsorship of CAS Project expenses towards clinical research.
  • Conducted a public awareness program on World Thalassemia Day (May 18) & World Down syndrome day (Mar 19).
  • Organized CME on “Integrating Genomics into Clinical Practice” (Jul 18) & “Autism awareness day” (Apr 19).
  • Published papers in National & International journal & CHAPTER IN BOOK-“Genetics in Congenital Heart Disease” In “A Comprehensive Approach to Congenital Heart Disease (A Lifelong Odyssey)” Jaypee brothers, ISBN 978-93-5090-267-7
  • Fellowship & Membership

  • Short term Fellowship-Medical Genetics, York Hill Hospital, Glasgow, U.K.
  • Indian Society of Human Genetics (ISHG).
  • Indian Academy of Paediatrics-Genetics Specialty Chapter.
  • Bangalore Society of Obstetrics & Gynaecology.
  • Indian Society of Inborn Errors of Metabolism.
  • Indian Society of Prenatal Diagnosis & Therapy.
  • Languages Spoken

  • English
  • Hindi
  • Kannada
  • Tulu
  • Field of Expertise

  • Over 16 years of extensive experience in the field of Medical Genetics Prenatal diagnosis & Genetic counseling
  • Genetic diagnosis of Down syndrome, Autism, β-Thalassemia, Haemophilia, Duchenne muscular dystrophy (DMD) & Spinal muscular atrophy (SMA) etc.
  • Genetic counseling in consanguinity, recurrent abortions, Infertility, Pre- implantation Genetic Screening Test (PGT), Non-Invasive Prenatal Screening (NIPT/NIPS)
  • Expertise in Karyotyping, FISH study, Double/Quadruple study, Chromosomal Microarray & Next Generation Sequencing (NGS)
  • Risk assessment in hereditary cancer disorders like Breast & Ovarian cancer

Blogs

Hemophilia: Causes, Symptoms, and Prevention

Haemophilia is a rare inherited condition that affects the blood's ability to clot. People having haemophilia usually experience prolonged bleeding or oozing following an injury, surgery or having a tooth extracted. People with haemophilia lack certain proteins in their blood called clotting factor which play an important role in controlling bleeds. There are two types -Haemophilia A (clotting factor VIII deficiency) and Haemophilia B (factor IX deficiency).

World Thalassemia Day 2020: Know More About Thalassemia

Thalassemia is an inherited blood disorder caused by abnormal haemoglobin. It occurs when there is a defect in a gene that helps control the production of haemoglobin. Thalassemia is a type of Hemoglobinopathy and is the most common single-gene disorder in the world population.

Down syndrome: Diagnosis and Management

A healthy individual is born with 46 chromosomes, present in 23 pairs. The 22 pairs are common in all, known as autosomes and the 23rd pair is the sex chromosome (XX or XY). Chromosomes carry genes that pass certain characteristics from the parents to their children. Abnormalities occur when there is an extra chromosome.

Autism Spectrum Disorder: Causes and Symptoms

Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects communication and behaviour. It is known to cause a triad of impairment in imagination, language and social interaction. ASD has a ‘spectrum’ word in it as there is an array of conditions and symptoms people experience. It includes various conditions that are diagnosed separately such as autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS) and Asperger syndrome.

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