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National Task Force Multicentric Collaborative Study of the Clinical Biochemical and Molecular Characterization of Lysosomal Storage Disorders in India    
  The Department of Health Research and Indian Council of Medical Research have constituted a National Task Force to perform a multicentric collaborative study at different research institutes across the country. The goal is to establish a smooth network of referral and counselling facilities for affected families. Accurate data management is planned to understand the overall impact of lysosomal disorders on patients, families and the communities. Nine different centres conduct mutation screening for about 30 different lysosomal storage disorders. Interested physicians can contact the principal investigators directly for mutation analysis. Further information can be found at http://www.icmrmetbionetindia.org/task-force-disoredrs.php    
 
 
 
Lysosomal Storage Disease Genes Tested Principal Investigator (PI) and Co-PI Centre
MPSI Hurler Syndrome IDUA Dr Madhulika Kabra
madhulikakabra@hotmail.com
Dr Neerja Gupta
neerja17aiims@gmail.com
AIIMS
All India Institute of Medical Sciences, New Delhi
Sanfilippo syndrome Type A/MPSIII A SGSH
Sanfilippo syndrome Type B/MPSIII B NAGLU
Sanfilippo syndrome Type C/MPSIII C HGSNAT
Sanfilippo syndrome Type D/MPSIII D GNS
Fucosidosis FUCA1
Gaucher Disease GBA Dr Jayesh Sheth
jshethad1@gmail.com
FRIGE
Foundation For Research in Genetics and Endocrinology, Ahmedabad
Juvenile Onset NCL PPT1 TPP1
Tay-Sachs/GM2 gangliosidosis GM2A HEXA
Niemann-Pick Disease Type A SMPD1 Dr Ashwin Dalal
ashwindalal@gmail.com
Dr Prajnya Ranganath
prajnyaranganath@gmail.com
CDFD
Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Niemann-Pick Disease Type C 1 NPC1
Niemann-Pick Disease Type C 2 NPC2
Mucolipidosis I/Sialidosis NEU1
Mucolipidosis II ( I Cell Disease) & Mucolipidosis III A/B (PseudoHurler polydystrophy) GNPTAB/ GNPTG
Mucolipidosis type IV MCOLN1
Farber disease ASAH
MPS VI Maroteaux-Lamy ARSB
MPS VII Sly Syndrome GUSB
Sandhoff disease/GM2 HEXB Dr Parag Tamhankar paragtmd@gmail.com
Dr Susan Thomas
thomass@nirrh.res.in
NIRRH
National Institute for Research in Reproductive Health, Mumbai
gangliosidosis-Infantile  
Krabbe disease GALC
Activator Deficiency/GM2 Gangliosidosis GM2A
Alpha-mannosidosis MAN2B1
Beta Mannosidosis MANBA
Morquio Type A/MPS IVA GALNS Dr Girisha KM
girishkatta@gmail.com
KMC
Kasturba Medical College, Manipal
GM1 gangliosidosis GLB1
Metachromatic Leukodystrophy ARSA Dr Seema Kapoor
drseemakapoor@gmail.com
MAMC
Maulana Azad Medical College, New Delhi
Sphingolipid activator protein deficiencies PSAP
Infantile Free Sialic Acid Storage Disease /ISSD SLC17A5
Gaucher Disease GBA Dr Sankar VH
sankarvh@gmail.com
SATH
SAT Hospital, Trivandrum
Galactosialidosis PPGB
Fabry disease GLA Dr Shubha Phadke
shubharaophadke@gmail.com
SGPGIMS
Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
MPS II Hunter syndrome IDS
Schindler disease α-NAGA
Pycnodysostosis CTSK
Wolman disease LIPA
Pompe Disease/Glycogen storage disease type II GAA Dr Ratna Dua Puri
ratnadpuri@yahoo.com
SGRH
Sri Ganga Ram Hospital, New Delhi
Multiple sulfatase deficiency SUMF1
Aspartylglucosaminuria AGA
     
   
   
     
 
 
 
 
 
 
 
 
     
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