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 |