Project title: “Clinical and Molecular Characterization of Hereditary Sensory and Autonomic Neuropathy (HSAN) Type IV”
Project in Brief:
One project is titled "Clinical and Molecular Characterization of Hereditary Sensory and Autonomic Neuropathy (HSAN) Type IV". (Protocol No: IEC/2023/08/05). The study is in collaboration with Indira Gandhi Institute of Child Health (IGICH), Bengaluru. The risk of incidence of HSAN increases with the occurrence of consanguineous marriages, which is prevalent in India even today. This study involves approaching patients with a positive history of HSAN holistically, from conducting a genetic analysis to symptomatic management for better quality of life.
Project title: "Cartilage Oligometric Matrix Proteinase (COMP) Levels in Osteoarthritis (OA) in Knee''
Project in brief:
The other project titled "Cartilage Oligometric Matrix Proteinase (COMP) Levels in Osteoarthritis (OA) in Knee'' (Protocol No: COMP-CS-02) is a study to evaluate and clinically as well as radiologically correlate the disease progression of OA with levels of COMP. This in turn helps in standardising a biomarker for the diagnosis & staging of OA. With the increase in prevalence of this disease with the middle and older group of adults, this study will serve beneficial in diagnosing OA with serum biomarkers which will contribute to an accurate and standardised management.
FUTURE DIRECTIONS:
Future Directions:
In the future, we intend to develop a Registry for the disease, Hereditary Sensory and Autonomic Neuropathy Type IV in India which will be first of its kind and will be a useful tool for future research.
Why a Registry?
The registry will be a vital resource for all kinds of research from diagnostics to therapeutics.
It will serve as a verified and reliable source of data for retrospective studies and a strong foundation for prospective studies.
The registry will also act as a base for futuristic collaborations with international organisations of similar interest to make a global impact.