Report on

“International Conference on Human Genetics & 39th Annual Meeting of Indian Society of Human

Genetics”

Date: 22nd – 25th January, 2014 Venue: Ahmedabad Management Association Complex, ATIRA Campus, Ahmedabad

Organized by Supported by

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Contents

Background ......................................................................................................................................................... 3

Event Details ........................................................................................................................................................ 3

Inaugural Session................................................................................................................. 3

List of Dignitaries ........................................................................................................................................... 3

Session Details ..................................................................................................................... 4

Welcome Address by Dr. Jayesh Sheth, Chairman, ISHG & Director, FRIGE’s Institute of Human Genetics ..................................................................................................................................................... 4

Key Note Address by Dr. A.P.J. Abdul Kalam, Former President of India ................................................. 4

Address by Dr. Alok Dhawan, Director, Institute of Life Sciences, Ahmedabad University ..................... 4

Address by Shri. Akshay Saxena, Mission Director, Gujarat State Biotechnology Mission ...................... 4

Address by Dr. K. Thangraj, Director, Indian Society of Human Genetics ................................................ 5

Vote of Thanks by Dr. Frenny Sheth Additional Director, Cytogenetic and Molecular Cytogenetic Division, FRIGE’s Institute of Human Genetics, Ahmedabad ............................................................... 5

Publications Released .......................................................................................................... 5

Technical Sessions ............................................................................................................... 6

Brainstorming Session on Developing Policy on Screening of Genetic Diseases .................. 7

Way forward ........................................................................................................................ 9

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Background

On the theme of Healthy Genes – Healthy Life, The International Conference on Human Genetics & 39th

Annual Meeting of Indian Society of Human Genetics (ISHG) was held from 22nd - 25th January, 2014 at

Ahmedabad, Gujarat. The conference was aimed to bring together internationally and nationally

renowned scientists to discuss the latest developments, trends, technologies and clinical applications in

various areas of human genetics. Furthermore, various workshops were accomplished by eminent

scientists on subjects such as FISH, flow cytometry, array-Comparative Genomic Hybridization, UCSC and

Ensemble genome browser, PCR for early career researchers. The conference was organized by

Foundation for Research in Genetics & Endocrinology [FRIGE] – IHG and Institute of Life Sciences [ILS],

Ahmedabad University, Ahmedabad and co-sponsored by Department of Science & Technology

(Government of Gujarat) & Gujarat State Biotech Mission (GSBTM), Gandhinagar.

Event Details

Inaugural Session

List of Dignitaries Name Organization Designation

Dr. A.P.J Abdul Kalam Government of India Former President of India

Shri. Akshay Saxena

Gujarat State Biotechnology

Mission (GSBTM) Mission Director

Dr. K. Thangraj Indian Society of Human Genetics President

Dr. Annie Hasan Kamineni Hospitals HOD Genetics

Dr. Alok Dhawan

Institute of Life Sciences,

Ahmedabad University Director

Dr. Frenny Sheth

FRIGE’s Institute of Human

Genetics

Scientist and Additional Director, Cytogenetic and

Molecular Cytogenetic Division

Dr. Jayesh Sheth Indian Society of Human Genetics Chairman, ISHG & Director, Institute of Human Gentics, Ahmedabad

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Session Details

Welcome Address by Dr. Jayesh Sheth, Chairman, ISHG & Director, FRIGE’s Institute of Human Genetics Dr. Jayesh Sheth extended his gratitude to all the dignitaries present on the dais and further acknowledged

all the participants of the conference. It was discussed during the session that this conference has taken

the research oriented field of Human Genetics to the next level with around 600 scientists and researchers

from 30 different countries coming under one roof to discuss the latest developments, trends,

technologies and clinical applications in various areas of human genetics. This conference is a great

platform for the young researchers and the students to interact with the pioneers, who have

accomplished in their own field.

Key Note Address by Dr. A.P.J. Abdul Kalam, Former President of India Dr. A.P.J. Abdul Kalam started his address by emphasizing that such a huge gathering of scientists and

researchers reflects upon the overall scope of basic research of the domain. Hence, the conference would

be a nice platform to know about prevailing topics of the Genetics like genetic inheritance, the human

genome, genetic and metabolic disorders, new treatment modalities and the impact of genetic testing. It

was further highlighted that advancements in game changing technologies in genetics has enabled

detection of subtle changes in genome, transcriptome and proteome which form the pathophysiological

basis of many disorders.

Address by Dr. Alok Dhawan, Director, Institute of Life Sciences, Ahmedabad University Dr. Alok Dhawan emphasized that Indian Society of Human Genetics, established in 1972, has played a

pivotal role in disseminating the knowledge of human genetics of the country. It was accentuated that

development in Genetics has to go hand in hand with the environment sustainability and it is the sole

responsibility of the society to look forward to it with a motto of Healthy Genes and Healthy Life. It was

also appreciated that the Institute of Life Sciences by Ahmedabad University and FRIGE, Ahmedabad is a

blend of fundamental science with that of diagnostics and translational science, something which is much

needed in today’s world.

Address by Shri. Akshay Saxena, Mission Director, Gujarat State Biotechnology Mission Shri. Akshay Saxena addressed to the audience that such events are vital and are aligned with the state’s

vision and mission of inculcating technological advancements in healthcare systems for the benefit of the

society. It was also indicated that the State Government has already taken some initiatives in this field

and would like to formulate some new initiatives and amend some existing ones based on the inference

of this conference.

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Address by Dr. K. Thangraj, Director, Indian Society of Human Genetics Dr. K Thangraj extended his warm welcome and thanked the dignitaries on the dais to be the part of the

conference. He applauded the efforts of Dr. Jayesh Sheth and his team for gathering the best minds of

this field for the auspicious event.

Vote of Thanks by Dr. Frenny Sheth Additional Director, Cytogenetic and Molecular Cytogenetic Division, FRIGE’s Institute of Human Genetics, Ahmedabad Dr. Frenny Sheth expressed her gratitude and acknowledged the efforts of one and all responsible for the

event. She stated that the event would give the insight to identify areas of improvement and knowledge

transfer and would motivate all the stakeholders of the society be it public or private to come forward

and work in a collaborative manner to take this science to a new level.

Publications Released During the inaugural session, following four publications were released by the dignitaries on the dais

Molecular Cytogenetics, Proceedings of International Conference on Human Genetics & 39th Annual

Meeting of Indian Society of Human Genetics by BioMed Central

Souvenir, International Conference on Human Genetics & 39th Annual Meeting of Indian Society of

Human Genetics by ISHG

Database of Genetic Diseases in Gujarat: A Perspective for Policy Planning by GSBTM, DST

Genetics in Clinical Practice: Symptoms, Diagnosis & Therapy by Jayesh Sheth & Frenny Sheth

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Technical Sessions A total of 72 papers and 192 posters were presented on Day 2, 3 & 4 of the conference under various

themes such as Cancer Genetics, Genetic Basis of Reproductive Disorders, Complex Diseases, Molecular

Cytogenetics, Single Gene Disorders, Epigenomics, Next Generation Sequencing etc. Around 600

participants from 30 different countries were part of the conference. The presenters were from eminent

institutions like UCL Institute of Child Health (UK), University of Geneva Medical School (Switzerland),

CSIR-Institute of Genomic and Integrative Biology (New Delhi), Diabetes Research Foundation (Chennai),

Memorial University of Newfoundland (Canada) etc. The abstracts of all the papers and posters presented

were published and released as a Souvenir by FRIGE’s Institute of Human Genetics (IHG) and Institute of

Life Science (ILS). Further, eight Young Scientist Awards in the various fields of Human Genetics were

given on the basis of the research and paper presentation to the following scientists under age 35.

Name Organization Topic of Research

Srinivas Bandaru Institute of Genetics and Hospital for Genetic Diseases, Osmania University

Association of ADRB2 Polymorphism with Refractoriness to Salbutamol in Asthmatics and Identification of Levosalbutamol as a Potential β2 Against Mutated β2 Adrenergic Receptor through Viral Screening

MN Phani Division of Biotechnology, School of Life Sciences, Manipal University

Population specific risk association of potassium channel gene polymorphisms for type 2 diabetes

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Patricia Pinto and Dr. S. Shetty

National Institute of Immunohaematology (ICMR), KEM Hospital

Genetic and Non-Genetic Risk Factors for the Development of FVIII Inhibitors in Indiac Haemophilia A Patients

Pavani Upendram Department of Genetics & Molecular Medicine, Kamineni Hospitals

Genomic Alterations Responsible for Development of Cervical Cancer

Shantashri Vaidya National Institute of Immunohaematology (ICMR), KEM Hospital

Understanding the interplay between BCR/ABL dependent and independent mechanisms of imatinib resistance

Avisek Majumder FRIGE’s Institute of Human Genetics

Effect of PPAR-ϒ2 Gene Pro12Ala Polymorphism and Vitamin D on glucose homeostasis in Type 2 Diabetic Subjects from western India

Mehul A. Mistri FRIGE’s Institute of Human Genetics

Disease Causing Novel Mutations in the HEXA gene: Study of 8 Children with Tay-Sachs disease from India

Chitra Ankleshwaria FRIGE’s Institute of Human Genetics

Identification of Novel Mutation and high prevalence of L444P mutation on Glucocerebrosidase (GBA) gene with severe type-I phenotype: Experience of 32 Gaucher disease patients from India

Brainstorming Session on Developing Policy on Screening of Genetic Diseases

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A 2 hour brainstorming session aimed at developing policy on genetic diagnostics was held on day 3 of the conference by the following dignitaries:

Sr. No.

Name Designation

1. Shri. A.K. Saxena, IFS. Session host

2. Dr. Madhvi Joshi, Sector Specialist, Pharma & Healthcare,

GSBTM Session Coordinator

3. Prof. Sir John Burn, Professor of Clinical Genetics, Newcastle

University Speaker

4. Prof. Dr. Rolf-Dieter Wegner, Center for Prenatal diagnostics

and Human Genetics, Germany Speaker

5. Prof. Richard Cotton, Human Variome project, University ,

Australia Speaker

6. Prof. Diana Anderson, University of Bradford, UK Speaker

7. Prof. Thomas Liehr, Yerevan State University, Armenia Speaker

8. Dr. I. C. Verma, Director, Center of Medical Genetics, Sir

Ganga Ram Hospital, New Delhi Speaker

9. Dr. Roli Mathur, Scientist D, ICMR, New Delhi Speaker

10. Dr. DipikaMohanty, Senior Consultant, Hematologist, Apollo Speaker

11. Dr Jayesh Sheth, Director, FRIGE, Ahmedabad Speaker

12. Prof. Anita Rauch, Switzerland Speaker

13. Dr Freny Sheth, Director, FRIGE, Ahmedabad Speaker

14. Prof. Virginia Kimonis, USA Speaker

15. Dr. Snehal Bagatharia, Sector Specialist, Agriculture, GSBTM GSBTM Representative

16. Aanal Pandit, Research Associate, GSBTM GSBTM Representative

17. Dr. Poonam Bhargava, Research Associate, GSBTM GSBTM Representative

18. Darshan Patel, Junior Research Fellow, GSBTM GSBTM Representative

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19. Gunjan Brahmbhatt, Project Assistant, GSBTM GSBTM Representative

Outcomes of the Session

Dr. Dipika Mohanty, Senior Consultant, Hematologist, Apollo was of the opinion that Sickle Cell

Anemia is one of the major public health problem in India and to overcome this New Born screening

is necessary. She further suggested that Genetic Counseling needs to be conducted throughout the

country.

Dr. Roli Mathur, Scientist D, ICMR, New Delhi suggested that a genetic testing program should be

conducted which should be integrated with service providers who are supposed to communicate well

with public. She also stated that it should not only be lab test. It should involve counseling by clinicians

and then lab test should be preferred.

Prof Sir John Burn, Newcastle University suggested that genetic centers of branches like Neurology,

Dermatology should be setup. He opined that a target should be set for e.g. at least 8000 patients

should be diagnosed per year and replication of that data should be avoided. He also put forward a

thought of putting genomics in medicine.

Dr. Richard Cotton suggested that data collection and naming of the mutations should be done in a

proper manner. He also pointed out the Consortium on Genetic Disease at UNESCO which can help in

policy planning.

Dr. I. C. Verma emphasized that Genetic Clinics should be a part of hospitals and medical colleges and

these clinics should be having a database. High end equipment can be centralized at one place.

Mr. Saxena focused that policy has to take care of security of genetic data too. Databases of genetic

diseases should be kept with different levels of security. In case data is to be retrieved by private

laboratories, they should report what happens to their data. He concluded that a proper regulatory

system for private institutes will suffice all these requirements.

Way forward Need to develop a common vision to find opportunities in the area of Molecular Cytogenetic and Flow

Cytometry

Genetic Testing program should be conducted throughout the country which should incorporate genetic counselling and lab testing both.

“Finding cures for genetic disorders” including basic research on genetic inheritance and the human genome needs to be looked upon

Data collection and naming of the mutations needs to be done in a better way. The organization like UNESCO having a Consortium of Genetic Disease can help in directing the way.

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Genetic Clinics should be a part of hospitals and medical colleges and these clinics should be having a database where high end equipment can be centralized at one place.

A proper regulatory system for private institutes for fetching databases of genetic diseases

Need for translational research on new treatment modalities and the impact of genetic testing