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.

1. 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

2. 2
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

3. 3
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

4. 4
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.

5. 5
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

6. 6
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

7. 7
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

8. 8
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

9. 9
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.

10. 10
 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