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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


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


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]

[email protected]

Website : www.geneticcentre.org


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.


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.


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.


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


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


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


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%


LSDs at FRIGE


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


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


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.


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


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


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.


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.


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


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]


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


(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


Pune : KEM Hospital & Research Centre

Hyderabad : Centre for cellular & Molecular Biology (CCMB).

Chennai : Fetal care Research Foundation (FCRF).

Co – I : Dr. Jayesh J. Sheth


(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


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


Centers involved in FISH-DBT project:

Ahmedabad : Foundation for Research in Genetics and


Ahmedabad : Rajasthan Hopital

P I : Dr. Frenny J. Sheth

Co-I : Dr. Ashwin Patel/Dr. Jayesh Sheth


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.


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


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.


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


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].


Workshop & Symposium at/by FRIGE

Workshop on Cytogentic Diagnositc techniques from December 1-6 2008


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


3. Astha Bhardwaj


4. Palak Gandhi


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


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


25. Ritisha Patel


26. Richa J Parikh


27. Megha Kalubhai Patel


28. Kamini A Patel


29. Geera. M. Chauhan

P M Patel Institute of Bioscience, S P Uni.

30. Sandip B Patel


31. Sevantikumar Patel


32. Dipenkumar Shah

Saurashtra Uni., Rajkot

33. Jitendra L Patel

Saurashtra Uni., Rajkot


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.


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.

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