GGGeneral RRReport
2008 – 2009
Foundation for Research In Genetics and
Endocrinology[FRIGE]
ISO 9001 – 2000 CERTIFIED INSTITUTE
Research Centre
Recognized by DSIR as SIRO
MINISTRY OF SCIENCE AND TECHNOLOGY GOVERNMENT of INDIA
General Report of FRIGE Year 2008-09 www.geneticcentre.org 2
Name of Trustees
Dr. Jayesh Sheth Dr. Rama Vaidya
Dr. Frenny Sheth Dr. R. K. Goyal
Prof. V. C. Shah Dr. Bipin Shah
Mr. Gopal Savjani
Ethical Committee
Dr. Harish Padh Dr. Sunil Trivedi
Dr. Ashwin Patel Dr. R. K. Goyal
Dr. Atul Munshi Ms. Tammi Vin
Research Committee
Dr. Sunil Trivedi Dr. Pratibha Amre
Dr. Navneet Shah Dr. Ashwin Patel
Dr. Girish Shah Dr. Bindu Shah
Dr. Supriya Dalal
FOUNDATION FOR RESEARCH IN GENETICS AND ENDOCRINOLOGY [FRIGE]
FRIGE HOUSE, OPP. SHRADDHA SCHOOL, JODHPUR GAM ROAD
SATELLITE, AHMEDABAD – 380 015, GUJARAT, INDIA Ph. : 079-26921414, 65128444; Fax : 079-26921415
Email : [email protected], [email protected] Web site : www. geneticcentre.org
General Report of FRIGE Year 2008-09 www.geneticcentre.org 3
Staff at FRIGE
Hon. Director Dr. Jayesh Sheth
Addn. Director Dr. Frenny Sheth
Executive Trustee Prof. V. C. Shah
General Administrator
Mr. Deepak Sheth
Scientific Staff
Mrs. Manisha Desai Mr. Deepak Sheth Mr. Harshad Thakore Mr. Nrupesh Oza Ms. Hina Oza Ms. Anamika Gupta Mr. Mehul Mistri Ms. Jhumur Pani Mr. Sihir Mehta
Academic Co-ordinator
Ms. Tammi Vin
Visiting Scientists
Dr. Chitra Thakur Dr. Girish Shah
Dr. Uppala Radhakirshna
General Report of FRIGE Year 2008-09 www.geneticcentre.org 4
Accountants/Secretarial Staff
Mr. Jigar Parikh Ms. Renet Christie
Lab Representatives
Mr. Raju Vaghela Mr. Jashu Vaghela Mr. Ashok Vaghela Mr. Govind Ray Mr. Lalit Ray
Aims and Objectives of FRIGE
• To undertake various scientific projects related to Genetics and
Endocrinology
• To carry out basic and translation research in the field of Genetics
and Endocrinology
• To train students of Bio-technology and Genetic Science
• To organize scientific seminars, workshops in the fields of Genetics,
Endocrinology and Bio-technology every year.
FRIGE At a Glance Name of the Organization: Foundation for Research In Genetics
& Endocrinology [FRIGE]
Address of Registered Office: FRIGE House, Opp. Shraddha School
Jodhpur Gam Road, Satellite
Ahmedabad –380015, Gujarat, INDIA
Phone Numbers : 91-79-26921414; Fax : 91-79-26921415
Email: [email protected]
Website : www.geneticcentre.org
General Report of FRIGE Year 2008-09 www.geneticcentre.org 5
Journey till date FRIGE was established in the year 2000 to carry out research work in the
areas of Genetics and Endocrinology. And to provide translation research
that is to utilize the latest technology and knowledge for the welfare of
human cause and sufferings.
In the year 2001 -2
Dr. Frenny Sheth and Dr. Jayesh Sheth has obtained UICC and WHO
fellowship respectively and went to Europe to learn molecular
Cytogenetics and Gene Polymorphism study.
Year 2003
FRIGE had received national accreditation as a recognized research
centreby Department of Scientific and Industrial Research (DSIR),
Department of Science and Technology, New Delhi.
Year 2004
FRIGE has started a Molecular Cytogenetics Study service that is
Fluorescence In Situ Hybridization (FISH) study for leukemia and various
microdeletion syndrome.
FRIGE has also started doing lysosomal enzyme study for the first time in
India. Further extension of study was carried out after training of Dr. Jayesh
Sheth at Guy Hospital, London in 2006.
Organized 7th National conference of Indian Society for Prenatal Diagnosis
and Therapy (ISPAT) from January 23 to 25, 2004. This was the major
milestone of FRIGE where 12 international scientists had come to
participate in the conference along with national scientists. Hon. Chief
Minister of Gujarat, Mr. Narendra Modi had addressed the inaugural
function. A workshop on Antenatal Diagnostic Techniques was also held
from January 20 to 23, 2004 at Ahmedabad.
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Year 2005
FRIGE has got ISO 9001-2000 certification. Following this FRIGE has
obtained major research project on Lysosomal Storage Disorders from
Indian Council for Medical Research, New Delhi for three years.
Year 2006-7
FRIGE has started doing Molecular Diagnosis especially in B-Thalassemia
with the help of Dr. Chitra Thakur and Dr. Flavin Vaz from Wadia Hospital.
Mumbai.
Another collaboration project entitled “Study of Genetic Susceptibility of
Neural Tube Defects and Its Association with Maternal Vitamin B12 and
Folate Status.” from DBT together with KEM Hospital-Pune, CCMB-
Hyderabad, FRCF-Chennai was sanctioned for three years.
Year 2007-8
During this transition FRIGE has established its independent Reseach
Centre at FRIGE House which has about 4500 sq. ft. working area, mainly
for Cytogenetics, Molecular Genetics, Molecular Cytogenetics and
Biochemical Genetics. Infrastructure and setup of FRIGE has Scientific,
Academic and Administrative departments. FRIGE has its own library and
conference room (30 person capacity)
FRIGE had also organized a ten days winter workshop on Molecular
Diagnostic Techniques in November, 2007 in which 12 participants
participated from different parts of country.
In January 2008 under the Gen-Diot program of GSBTM (Gujarat State
BioTech Mission), FRIGE was one of the centre to train man power in
Genetics and BioTechnology.
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Year 2008-9
• In September-October 2008 Dr. Frenny Sheth went to Lille, France to get
training in CGH Micro array techniques under UICC ICRETT Fellowship.
• In Jaunary 2009 Dr. Jayesh Sheth went to Guy Hospital London U. K. to
get training in lysosomal enzyme studies
• In March 2009, FRIGE has applied for the financial assistance for the
project of “Mutation study of the prevalent Lysosomal storage disorders
in India and extension of Lysosomal enzyme study in western India.”
• FRIGE has started new diagnostic services for Moruquio A syndrome,
MPS by electrophoresis, enzyme study for Batten disease and many
more…….
Academics in year 2008-2009 Organized a winter workshop in December – 2008 on “Cytogenetics and
Molecular Cytogenetics in Genetic Disorders”. Where 10 participants
participated from different parts of country.
Journey ahead……….. In next years (2009 ahead) FRIGE has a plan to establish indigenous FISH
probes preparation, provide stem cell therapy to the B-Thalassemia
patients and also offer some new born screening program for treatable
metabolic disorders. FRIGE has also planned to provide genetic services in
Array CGH techniques with affordable charges.
FRIGE is having ongoing log term programs & training courses in the field
of BioTechnology. FRIGE has given training to various biotech students
from India, Iraq, Iran & U. K.. Trained professionals and scientists will
strengthen the human resources at diagnostic and research centre across
the country and beyond boundaries at global level.
General Report of FRIGE Year 2008-09 www.geneticcentre.org 8
Dr. Jayesh Sheth is a recognized guide to the following student for Ph. D program.
Mr. Mehul Mistri
Areas of Research @ FRIGE
• Cytogenetics
• Biochemical Genetics
• Molecular Genetics
• Molecular Cytogenetics
• Endocrinology
Academic affiliation and Recognization: SIRO organization recognized by Ministry of Science and Technology and
Dept of Scientific and Industrial Research, Govt. Of India
Recognition No. : 14/409/2005-TU-V dated 25/06/2008 till 2011
University affiliation:
Recognized as a research organization for Ph. D. program By The
Maharaja Sayajirao Gaikwad University (M. S. University) Vadodara
General Report of FRIGE Year 2008-09 www.geneticcentre.org 9
Finance and Donations (Yr. 2007 – 2008)
YEAR INCOME
2007-08 Grants Donations/Training Project related
Foreign Contributions
Testing Others
(Corpus &
Interest
Total Income
For R&D activities
2,73,818 2,60,305 - - - 12,264 5,46,387
For Non R&D activites
- - - - - -
Total 2,73,818 2,60,305 - - - 12,264 5,46,387
YEAR EXPENDITURE
2007-08 Capital Revenue expenditure other
than salaries
Salaries Others Total Expenditure
For R&D activities
1,78,008 4,45,187 1,71,608 1,06,884 7,23,979
For Non R&D activites
- - - - -
Total 1,78,008 4,45,187 1,71,608 1,06,884 7,23,979
General Report of FRIGE Year 2008-09 www.geneticcentre.org 10
Grants received during the Yr. 2008 – 2009 YEAR
2008-09 Grants received Funding Agencies
For R&D activities
3,52,662
1,95,400
13,74,000
20,000
25,000
50,000
50,000
Indian Council of Medical Research [ICMR] LSD Project
Department of BioTechnology [DBT] NTD Project
Department of BioTechnology [DBT] FISH Project
Council for Scientific and Industrial Research [CSIR] Workshop
Indian Council of Medical Research [ICMR] Workshop
Gujarat State BioTechnology Mission [GSBTM] Workshop
Medical Council of India [MCI] Workshop
Total 20,67,062
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Translation Research at FRIGE
Biochemical Genetics at FRIGE –IHG (2008-09) Lysosomal Enzyme study at FRIGE, (N=507), Abnormal=167, 32.94%
Mucolipidosis2%
Batten Disease1%
MPS IVB16%
MPS I1%
NPD C1%
Krabbe disease2%
Sialic Acid Storage Disorder2%
NPD A & B7%
Gauchers8%
GM2 Gangliosidosis20%
MLD10%
Pompe 11%
MPS VII5%
MPS VI11%
MPS III B1%
MPS IVA1%
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LSDs at FRIGE
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Cyto Genetic Study at FRIGE
Cytogenetics at FRIGE (2008-09)
BLOOD69%
PRENATAL14%
ABORTUS15%
CANCER2%
BLOOD PRENATAL ABORTUS CANCER
Cytogenetic study in blood at FRIGE (2008-09)
050
100150200250300350400450500550
AMENORRHOEA
RFL-BOH
AMBIGUIO
US GENETALIA
MICELL
ANEOUS
DOWN SYNDROME
Types of indications
No.
of p
atie
nts
NormalAbnormal
General Report of FRIGE Year 2008-09 www.geneticcentre.org 14
Molecular Study at FRIGE
Array-CGH study at FRIGE
Recent development of array-CGH has shown that, it is possible to
substitute the chromosome target by a DNA spot on a glass slide. The
processing technique is similar to that of CGH metaphase, a mixer of
equal quantities of DNA from the patient and control is labeled with
different fluorochromes is used and hybridized on a coated glass slide
where an ordered set of defined nucleic acid sequences are spotted.
This technological development allows screening of large number of
genomic DNA sequences in a single experiment, depending on the size
of the spot. Chromosomal imbalances across the genome can be
mapped and quantified by analyzing the fluorescence ratio of the two
dyes for each target. DNA quantitative variation can be identified, only
if the DNA fragments used on the glass slide covers regions of interest.
Conventional cytogenetic is a gold standard for the detection of
genetic alterations in constitutional and acquired anomalies. 400-bands
karyotype allows detection of anomalies up to 10-15 Mb whereas high
resolution helps in revealing between 3-5 Mb. Developments of more
accurate technique - FISH has helped us in identifying various micro-
deletions and sub-telomeric exchanges even in non-dividing cells.
Introduction of array-CGH has brought much higher resolution to detect
the genomic imbalances. BAC/PAC or oligonucleotide based array-
CGH is useful in the detection of quantitative imbalance of
constitutional, haematological and solid tumor as well. The resolution
varies from several kb to 1 Mb depending upon the type of array
selected. More recent improvement in the array-CGH technology will
General Report of FRIGE Year 2008-09 www.geneticcentre.org 15
definitely make a link between cytogenetic and molecular biology
despite of Copy Number Variations/ Polymorphisms and without
replacing conventional cytogenetic. This technology will prove to be
more and more helpful in the diagnosis of quantitative cryptic
imbalances of whole genome in the near future.
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FREQUENCY ANALYSIS OF β-THALASSEMIA MUTATIONS IN GUJARAT (2008-09)
TYPE OF MUTATION MUTATION FREQUENCY (%) NO. OF PATIENTS
COMMON MUTATIONS IVS 1-5 (G→C) 47.65 71 619 bp deletion 7.38 11 FS 41-42 (-CTTT) 9.39 14 FS 8-9 (+G) 3.35 5 IVS 1-1 (G→T) 4.69 7
RARE MUTATIONS
cd 5 (-CT) 2.68 4 cd 15 (G→A) 2.68 4 FS 16 (-C) 2.01 3 cd 30 (G→C) 4.02 6 cd 30 (G→A) 4.02 6 Cd 26 1.34 2 Cd 6 2.68 4 Cd 121 2.01 3 Cap +1 (A→C) 2.68 4 UNIDENTIFIED MUTATIONS 3.35 5 TOTAL 100 149
STUDY OF GENE MUTATION FOR NONSYNDROMIC HEARING LOSS IN GUJARAT (2008-09)
MUTATION SAMPLE AFFECTED NORMAL TOTAL
GJB2 (w77X)
BLOOD 1 3 4
TOTAL 1 3 4
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STUDY OF MYOTONIC DYSTROPHY IN GUJARAT (2008-09)
MUTATION SAMPLE AFFECTED NORMAL TOTAL DMPK repeats
increase BLOOD 3 0 3
TOTAL 3 0 3
STUDY OF SPINOCEREBELLAR ATAXIA IN GUJARAT (2008-09)
MUTATION SAMPLE AFFECTED NORMAL TOTAL
SCA repeats increase
BLOOD 1 5 6
TOTAL 1 5 6
STUDY OF ΔF508 GENE MUTATION FOR CYSTIC FIBROSIS IN GUJARAT (2008-09)
SAMPLE AFFECTED NORMAL TOTAL BLOOD 7 18 25
TOTAL 7 18 25
STUDY OF SMN GENE MUTATION FOR SPINAL MUSCULAR ATROPHY IN GUJARAT (2008-09)
SAMPLE AFFECTED NORMAL CARRIER TOTAL BLOOD 6 11 1 18
TOTAL 6 11 1 18
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FREQUENCY ANALYSIS OF DMD DELETION IN GUJARAT (2008-09)
DELETION IN EXON DELETION FREQUENCY (%)
NO. OF PATIENTS
EXON 47 47.48 11 EXON 52 4.34 1 EXON 47-52 4.34 1 EXON 46-48 4.34 1 EXON 46-50 4.34 1 EXON 45-52 8.69 2 EXON 43-45 4.34 1 NO DELETION FOUND IN ANY EXON 26.08 6
TOTAL 100 23
FREQUENCY ANALYSIS OF CHARCOT MARIE TOOTH SYNDROME IN GUJARAT (2008-09)
Two patients have been studied for Charcot Marie Tooth by PMP22
duplication study and both have found no duplication of PMP22 gene.
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Major R & D achievements In Biochemical Genetics
• Established lysosomal enzyme study of Palmitoyl Protein Thioesterase
(PPT) and Tripeptidyl Peptidase (TPP 1) for Batten disease
• Established lysosomal enzyme study of B-Galactosidase-6-Sulfate-
Sulfatase for Morquio Syndrome type A (MPS type IV A)
• Standardized new method of electrophoresis for
Mucopolysaccharidosis
In Molecular Genetics
• Established mutation analysis for Spinal Mascular Atrophy disease
(SMN Gene deletion)
• Established PAGE analysis for Cystic Fibrosis disease (delta 508
deletion)
• Standardized new molecular analysis for HLA-B-27
• Also established Single Nucleotide Polymorphism (SNP) study for
diabetes. We see polymorphism in peroxisome proliferator Activated
Receptor γ2 Pro12Ala. SNP is a DNA sequence variation occurring
when a single nucleotide (A, T, G or C) in the genome differs
between members of species.
• Also started a new molecular investigation to diagnose Charcot
Marie Tooth Syndrome by studying PMP22 duplication by Q PCR.
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Human Resource at FRIGE Sr.
No.
Designation Qualification Part time/full
time 1. Director Ph. D. Full time
2. Addn. Director Ph. D. Full time
3. Research Fellow B. Sc. (Cytogenetics) Full time
4. Research Fellow M. Sc. (Cytogenetics) Fulltime
5. Research Fellow M. Sc. (Cytogenetics) Full time
6. Research Fellow B. Sc. (Biochemical Genetics) Part time
7. Research Fellow M. Sc. (Biochemical
Genetics)
Full time
8. Research Fellow M. Sc. (Molecular Genetics) Full time
9. Receptionist cum P. A. to
Director
B. Com and C. S. Full time
10. Administrative officer M. Sc. Full time
11. Accountant B. Com Full time
12. Lab Attendent
(Genetics Department)
12th Pass Full time
13. Peon
(Genetics Department)
12th Pass Full time
14. Senior Technician B. Sc. (Endocrinology) Part time
15. Junior Technician M. Sc. (Endocrinology) Full time
16. Computer Operator B. A. Full time
17. Lab attendant 12th Pass (Endocrinology) Full time
18. Peon 9th Pass (Endocrinology) Full time
General Report of FRIGE Year 2008-09 www.geneticcentre.org 21
Research Projects completed at FRIGE
(1) Prostate Neoplasm : Impact of PSA, Growth Factor and Other Markers in
the early identification and differentiation Project No. : GUJCOST/192/03-04
Duration : Two years (2005-2006) Project : Multi-institutional
Centers involved in Prostate project: Ahmedabad : Sheth V. S. General Hospital and FRIGE P. I.: Dr. Jayesh J Sheth
(2) “Herbal Based preparations for Degenerative disorders: Diabetes mellitus
type II (NIDDM) with emphasis on insulin sensitization” Ref: 5/258/12a/2002-NMITLI
Duration : Six Years (2001 – 2006) Centers involved in CSIR Project: Ahmedabad: Sheth V.S.General Hospital and FRIGE P.I.: Dr. Jayesh Sheth Clinical Investigator: Dr. Navneet shah
This was the multicentric project of CSIR virtually involving many centres of the country including industrial partner [10 centers were involved]
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Ongoing Research Projects at FRIGE
(1) Study of Lysosomal storage Disorders in Children with Regression of
Milestone Project No. : 54/2/2005
Aims & Objectives of the project: (1) Timely and efficient clinical diagnosis of lysosomal disorders by
screening for physical and developmental abnormalities.
(2) Confirmation of the disorders through biochemical tests for different
lysosomal enzymes activity.
(3) To know the prevalence of different lysosomal disorders among
population.
(4) Offer prenatal diagnosis to the affected family in subsequent
pregnancy.
Genetic counseling and increasing medical awareness among
population in general.
Duration : Three years, from 15th Dec. 2006 to 14th Dec. 2009 Project : Multi-institutional
Centers involved in ICMR – LSD project: Ahmedabad : Foundation for Research in Genetics and
Endocrinology (FRIGE).
Pune : B. J. Medical College and Sasoon Hospital, Pune
Mumbai : Preventine Life Care Pvt. Ltd. P I : Dr. Jayesh Sheth
Co – I : Dr. Frenny Sheth
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(2)
Study of Genetic Susceptibility of Neural Tube Defects and Its Association with Maternal Vitamin B12 and Folate Status
Project No. : BT-PR/7585/PID/20/298/2006/29.9.06
Aims & Objectives of project:
To know the polymorphism of genes involved with folate/B12
metabolism in mothers with NTDs child.
To correlate genotype & nutritional status (Vit-B12/folate) to
achieve national consensus of nutritional supplement to minimize
the incidences of NTDs.
Duration : Three years, from 1st Jan. 2007 to 31st Dec. 2009 Project : Multi-institutional Centers involved in NTD project:
Ahmedabad : Foundation for Research in Genetics and
Endocrinology (FRIGE).
Pune : KEM Hospital & Research Centre
Hyderabad : Centre for cellular & Molecular Biology (CCMB).
Chennai : Fetal care Research Foundation (FCRF).
Co – I : Dr. Jayesh J. Sheth
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(3) Preparation and standardization of FISH probes for various Genetic
Disorders and Extension of Services in Gujarat Project No.: BT/PR9111/MED/12/337/2007
Summary: The incidence of constitutional structural chromosome abnormalities, which
are visible at the level of 400 bands, is approximately 1/200 at birth. This
includes all balanced de-novo - 1/1000 & inherited 1/400; all unbalanced
de-novo 1/1000 and inherited 1/2000 [1] that can usually be determined by
its banding pattern and parental studies. FISH analysis is necessary for the
identification and characterization of most unbalanced de novo structural
rearrangements including marker chromosomes for prognostication.
Numerical acquired aberrations that lead to gain or loss of chromosomal
material have been described in leukemia, lymphomas and solid tumors. It
is very important to know whether or not a particular chromosomal region
or a particular gene is involved in a chromosomal aberration, so that a
correct clinical diagnosis can be made and appropriate treatment
initiated. In many cases, this may not be possible without FISH or other
selected molecular studies.
Therefore numerous DNA probes have been commercialized, promoting
widespread clinical application of molecular cytogenetics. Many FISH
techniques have been developed including chromosome painting, SKY, M-
FISH, CGH and color banding. These all have been utilized in the studies of
structural abnormalities in conjunction with G-banding analysis in cancer.
Similarly more than thirty micro deletion syndromes have been described in
past two decades. Williams, Prader-Willi, Angelman, smith-magenis, 22q11.2
deletion and 1p36 deletion are the most common micro-deletion
General Report of FRIGE Year 2008-09 www.geneticcentre.org 25
syndromes. They are usually caused by a deletion of 2-4 mb DNA
sequence, undetectable by standard chromosome analysis. The overall
incidences of micro-deletion syndrome are likely to be 1/1000-2000
newborns or higher, given that the number of micro-deletion syndrome
described is increasing and the clinical recognition is difficult for many of
these disorders.
Various clinical application of FISH is evidenced by its growing use in
prenatal and Peri-implantation diagnosis of common aneuploidies,
detection of sub-telomeric aberrations in children with unexplained mental
retardation, study of mosaicism, detection of specific translocation and
gene rearrangements, genome wide screening for constitutional and
acquired alterations in many disease process.
Thus FISH has contributed to the understanding of many aspects of human
biology and as a diagnostic tool it has now become an essential
component in many areas of medical practice. However
commercialization of FISH probes and cost is the major hurdle in its
widespread use and application.
Therefore the development of indigenous methods where DNA can be
coupled to fluorophores to preserve FISH probes directed towards different
genomic targets, will enhance the utility of this novel technique, for its wider
research and diagnostic application.
Duration : Three years (2008-2010)
Project : Multi-institutional
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Centers involved in FISH-DBT project:
Ahmedabad : Foundation for Research in Genetics and
Endocrinology (FRIGE).
Ahmedabad : Rajasthan Hopital
P I : Dr. Frenny J. Sheth
Co-I : Dr. Ashwin Patel/Dr. Jayesh Sheth
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Project Submitted by FRIGE Mutation study for various LSDs-ICMR Project
(Submitted at ICMR, New Delhi, March 2009)
Mutation study of the prevalent Lysosomal storage disorders in India and extension of Lysosomal enzyme study in western India.
Project No. : IRIS ID No. 2009-01810
Summary
The Lysosomal Storage Disorders (LSDs) are a heterogeneous group of
monogenic disease affecting human from fetal period to neonatal and
progressing till adulthood. Though individually rare, as a group; the
combined prevalence of LSDs are 1:5,000 to 1:6,000 live births as per British
Columbia study. At FRIGE with our experience of last 5 years and as a part
of ICMR study (2007-09), 33% of children with neuroregression,
development delay and skeletal abnormality are found to have some
form of LSDs.
As a strategic plan due to heterogeneity of phenotypes seventeen
different lysosomal enzymes study has been carried out in more than 400
children and have found that the most prevalent LSD is
mucopolysaccharidosis followed by sphingolipid and glycolipid storage
disorder, with the prevalence of 46.53% and 35.3% respectively. This
includes, 16.66% MPS IV-B, 7.3% Niemann Pick disease type A or B (NPD
A/B), 9.3% Gaucher, 18.66% GM-2 Gangliosidosis and 12% Metachromatic
leucodystrophy (MLD) while rest were rare. However, other disorders like
lysosomal transport (Sialicacidosis, Salla disease, MLD type II), Krabbe and
Batten disease seems to be equally common among children with neuro-
regression. These need to be studied by enzymatic diagnosis from urine,
plasma and leucocytes as well.
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In addition, many times LSDs like Gaucher, NPD, MLD, Tay-sach’s, enzyme-
based diagnosis often present a problem of heterozygous status in an
affected individual, poor expression of enzymatic activity in leucocytes &
pseudo-deficiency of the enzymes during prenatal and postnatal
diagnosis. Severity of the disease also cannot be ascertained solely based
on enzymes study. Therefore, DNA diagnosis in such cases would be the
confirmative method of confirming the disease & providing counseling to
the family. Several mutations are known for each of these disorders, which
are likely to have an ethnical variation in India. So far no such study or
related data are available in the country, therefore mutations study in
GBA (Glucocerebrosidase), ASM (Acid Sphingomyelinase), ARSA
(ArylSulfatase-A), HEX-A (Hexosaminidase-A), GLB-1(Beta-Galactosidase-
1), GAA (alpha Glucosidase) and NPC1 (Niemann Pick type C) gene is
aimed to establish DNA based diagnosis of these diseases and thereby
providing better genetic counseling to the affected families for severity,
phenotype variation and prenatal diagnosis.
Duration : Three years
Project : Multi institutional
Centres involved in project:
Ahmedabad : Nidhi Children Clinic
Ahmedabad : Ankur Institute of Child Health
Pune : Birth Right Clinic
Mumbai : Preventine Lifecare Pvt. Ltd.
P I : Dr. Jayesh Sheth
Co - I : Dr. Nidhish Nanavaty
Dr. Raju C. Shah
Dr. Prakash Gambhir
Dr. Usha Dave
General Report of FRIGE Year 2008-09 www.geneticcentre.org 29
Scientific Publications during 2008-2009
1. Sheth Jayesh J., Sheth Frenny J., Oza Nrupesh J., Doshi Minesh H.
(2008): Triple maker study in midtrimestor of pregnancy and risk of
chromosomal abnormality: An Indian Experience. Ind. J of Obstet.
Gynec. 58(2),142-146.
2. Jayesh J Sheth, Frenny J Sheth, Nrupesh Oza (2008): Niemann-Pick
Type ‘C’ Disease: A case report. Ind. Peditr. 45:505-507
3. Sheth JJ., Sheth FJ., Pooja Pandya., Rashi Priya., Sejal Davla (2008):
Establishment of database for different mutations of β-globin gene
for β-thalassaemia with respect to different communities in the
population of Gujarat . Ind. J Pediatr . 75(6):567-570.
4. Sheth F. J, Sodhan Anura (2009): Double aneuploidy in a child with
Down Syndrome Ind. Pediatr, vol. 46 : 359 – 360.
5. Frenny Sheth, Joris Andrieux, Jayesh Sheth (2009). Marker
chromosome in a child with microcephaly and mental retardation
characterize by array-CGH as trisomy 18p. Ind Pediatr [In Press]
6. Andrieux Joris, Sheth Frenny (2009): CGH-Array study and its utility
in children for detection of Constitutional and Acquired
anomalies. Ind J Exper Biol, October 2009.
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7. Sheth JJ, Sheth F.J., Oza NJ, Gambhir PS, Dave UP, Shah RC (2009):
Plasma Chitotriosidase activity in children with lysosomal storage
disorders. Communicated to Ind J Pediatr. [In Press]
8. Vinci G, Brauner R, Tar A, Rouba H, Sheth JJ, Sheth FJ, Raval C,
McElreavey K, Bashamboo A (2009): Mutations in the TSPYL1 gene
associated with 46,XY DSD and male infertility. Fertility Sterility [In
Press]
9. Frenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, Anja Weise,
Jayesh Sheth, Sushma Patil, Monika Ziegler, Thomas Liehr. (2009) A
neocentric isochromosome Yp present as additional small
supernumerary marker chromosome – evidence against U-type
exchange mechanism? Cytogenetic Genome Research : 125(2),
DOI : 10.1159/000227836
10. Sheth JJ, Patel P, Shah RC, Oza N, Mistri M, Sheth FJ. (2009)
Prenatal diagnosis of Lysosomal Storage Disorders in India. Ind J
ped. [Under revision].
11. Sheth JJ, Oza N, Mistri M, Naik P, Kumar S, Sheth FJ (2009)
Mucolipidosis type II (I-Cell) in two children with skeletal
abnormality, dysmorphism and hepotasplenomaghaly. Pediatric
oncall vol (6) Art #.
http://www.pediatriconcall.com/fordoctor/casereports/mucolipidosis.asp
General Report of FRIGE Year 2008-09 www.geneticcentre.org 31
12. Sheth J, Mistri M, Godbole K, Sheth F (2009) : Prevalence of
Morquio B(Mucopolysaccharidosis IV B) in Children with Skeletal
Dysplacia : Int J Hum Genetics (Communicated)
13. Sheth J, Shah H, Sheth F (2009) : Infantile Glaucoma with coarse
facial features as an early complication of Hurler-Scheie.
[Submitted to Pediatric on call]
14. Sheth HJ, Sergi C, Pani J, Blouin JL, Sheth JJ, Sheth FJ (2009).
Double aneuploidy in a case of Down syndrome child with
maternal inheritance. (Submitted to J Med Genetics)
15. Sheth FJ, Ewers E, Kosyakova N, Weise A, Sheth JJ, Andrieux J,
Ziegler M, Liehr T (2009). Small supernumerary marker chromosome
present in a Turner syndrome patient not derived from X- or Y-
chromosome – evidence for an underestimated entity?
[Communicated to Euro J Med Genet].
General Report of FRIGE Year 2008-09 www.geneticcentre.org 32
Workshop & Symposium at/by FRIGE
Workshop on Cytogentic Diagnositc techniques from December 1-6 2008
General Report of FRIGE Year 2008-09 www.geneticcentre.org 33
General Report of FRIGE Year 2008-09 www.geneticcentre.org 34
Details of Trainees as on 2008-09
Sr. No. Name of Trainee Name of Institute 1. Aditi Kotdawala
St.Xavier’s College, Ahmedabad
2. Anura Gokul Shodhan
St.Xavier’s College, Ahmedabad
3. Astha Bhardwaj
St.Xavier’s College, Ahmedabad
4. Palak Gandhi
St.Xavier’s College, Ahmedabad
5. Janki (Jaydeep’s sis)
INTAS
6. Vinita Bharat
Shri Venkateshwara College, Delhi
7. Pankti V. Jain (No Proj.)
Nirma University
8. Jui Dave (No Proj.)
Nirma University
9. Esha Gauba
Maharshi Dayanand Uni., Rohtak
10. Patel Riddhi
Ganpat Vidhyanagar, Kherva
11. Presha Shah
Zoology Dept., Guj. University
12. Rachna Pandya
Zoology Dept., Guj. University
13. Parth Dalal
Sardar Patel University
14. Nitish
Dept. of Bioscience, S P University
15. Himanshi Choudhary
Karuna Medical College, Kerela
16. Sharmin Haideri
Manipal Uiversity
17. Ria Rautela
Amity University, Noida
18. Arohi Thakkar
Dept. of Botany, Guj. Uni
19. Parth Mashru
12th St. Delhi Public School
20. Nihar Shah
12th St. Delhi Public School
General Report of FRIGE Year 2008-09 www.geneticcentre.org 35
21. Mr. Vaishanv Devendra
Saurashtra University
22. Ms. Janki Patel
Saurashtra University
23. Sabanabanu A Patel
Shri P M Institute, S P University
24. Nayan Patel
Shri P M Institute, S P University
25. Ritisha Patel
Shri P M Institute, S P University
26. Richa J Parikh
Shri P M Institute, S P University
27. Megha Kalubhai Patel
Shri P M Institute, S P University
28. Kamini A Patel
Shri P M Institute, S P University
29. Geera. M. Chauhan
P M Patel Institute of Bioscience, S P Uni.
30. Sandip B Patel
Shri P M Institute, S P University
31. Sevantikumar Patel
Shri P M Institute, S P University
32. Dipenkumar Shah
Saurashtra Uni., Rajkot
33. Jitendra L Patel
Saurashtra Uni., Rajkot
General Report of FRIGE Year 2008-09 www.geneticcentre.org 36
Brief Introduction of Trustees and Visiting Scientists
Dr. Jayesh Sheth : (Ph. D., Biochemistry) He is the Director of FRIGE – Inistitute of Human Genetics. He is also associated with Dr. Shah’s Pathology Laboratory and as a associate professor of Endocrinology and biochemistry at Sheth Vadilal Sarabhai Hospital. He is also associated with Dr. Jivraj Mehta Hospital as a scientific advisor and with MMRC, Mumbai as a visiting endocrinologist. His main area of interest is research in Genetics and Endocrinology and parts of it some research projects on Molecular Cytogenetics and Biochemical genetics are going on at FRIGE. He has more than 85 research publications in peer reviewed national and international journals. He has delivered more than 100 presentations in national, international conferences and seminars. Dr. Frenny Sheth : (Ph. D., Cell Biology) She is a scientist and Additional Director of FRIGE – Institute of Human Genetics. She is giving training to graduate and post graduate students in the field of Cytogenetics. She has undergone the various training programs in stem cells, CGH micro array techniques, In house FISH probes preparations, hands on FISH techniques. Her area of interest is research in Cytogenetics and Molecular Cytogenetics. She has organized various workshops and seminars on Cytogenetics and Molecular Cytogenetic techniques. She has more than 60 publications in peer reviewed national and international journals. She has delivered more than 70 presentations in national, international conferences and seminars. Prof. V. C. Shah : (M. S., Ph. D., D. Sc., F. N. A., F. N. A. Sc.) He is associated with FRIGE – IHG as a trustee and also associated with Dr. Jivraj Mehta Smarak Health Foundation as a Trustee and Hon. Secretary. He has a wide experience of 40 years in teaching and pursuing research work in Cyogenetics, Cell Biology and Human Genetics. He has more than 190 research publications in national and international journals of repute. He has authored various books and monographs on Cytogenetics. He has guided 28 Ph.D. students and has published over 180 research papers in Indian and Foreign journals of repute. He was appointed as National Lecturer (U.G.C.). Was visiting Professor/Scientist at several Universities/Institutes in Canada, Australia, U.K., U.S.A., Germany and USSR. He was a Former Vice Chancellor of Bhavnagar University, Bhavnagar and M. S. University of Baroda, Baroda, Former Advisor to Cadila Pharmaceuticals. He is a Member of Governing Body & Emeritus Scientist at B. V. Patel Pharmaceutical Education and Research Development Centre, Ahmedabad.
General Report of FRIGE Year 2008-09 www.geneticcentre.org 37
Dr. R. K. Goyal : (Ph. D.) Dr. R. K. Goyal is a Hon. Vice Chancellor of The Maharaja Sayajirao University, Vadodara. He is a part professor of Pharamcology in L. M. college of Pharmacy, Ahmedabad. He is an eminent pharmacology scientist working in the area of diabetes and herbal plants. He is also on ICMR committee Herbal Monograph and several others. Dr. Rama Vaidya : (M. D., Ph. D., Reproductive Endocrinology) She is associated with FRIGE – IHG since beginning as a trustee. She is renowned clinical scientist of the country. She is also associated with MMRC, Mumbai as the Dean and as with Vasudha Clinic as a consultant reproductive endocrinologist. She has innumerable research publications in the national and international journals. She is also advisor in many pioneering research institutes of the country. Mr. Gopal Savjani : He is an Indian born American Instustrialist in Bio-technology and was CEO of Diagnostic System Laboratories Inc., U. S. A. Mr. Gopal Savjani besides industrialist, well known philanthropist in Saurashtra region. Dr. Bipin Shah : (M. D., Pathology) He was a founder of Dr. Shah’s Pathology Laboratory, Ahmedabad. He is also associated with Smt. Ushaben Shaw Charitable Trust, helping poor and needy patients at Civil Hospital. He was the President of Assocation of Pathologists of Ahmedabd and Lions Club of Digvijaynagar. He has delivered innumerable presentations in the conferences. Dr. Chitra Thakur : (Ph. D.) She is associated with FRIGE – IHG since last many years as a visiting scientist. She has a wide experience in techniques for biochemical and genetic laboratory testing. She is expert laboratory scientist and a leader for prenatal and postnatal diagnosis of hemoglobinopathies. She has undergone for the various training programs in the field of molecular genetics mainly on B-Thalassemia. She has more than 35 research publications in peer reviewed national and international journals. She has delivered more than 40 lectures in the conferences. Currently she is associated with Bai Jerbai Wadia Hospital, Mumbai as a Senior Research Biochemist since last about 20 years. She has also participated in various teaching programs. Dr. Prakash Gambhir : (M. D., Ped.) He is associated with FRIGE – IHG since last many years as a visiting scientist. He is currently associated with Sasoon General Hospital, Pune as a Research Officer. He is also associated with B. J. Medical College, Pune as Honorary Assistant Professor in Pediatrics. He is also appointed Postgraduate Teacher and Guide for M. D. Pediatrics and D.C.H. by University of Pune since 1994.