ORDIndia announces research collaboration with George Mason University, USA with the newly established center for the study of chronic metabolic and rare diseases (CSCMRD). ORDI co-founder, Dr. Harsha Rajasimha to serve as Co-Director of the center along with Dr. Ancha Baranova, Associate Professor, George Mason University. The center webpages can be accessed at:
https://cscmd.cos.gmu.edu/index.html
Rare Diseases Research
There are over 7000 estimated rare diseases known to the community of which over 100 diseases are due to inborn errors in metabolism. About 80% of all rare diseases are believed to have genetic cause and a majority of them are estimated to be monogenic. The OMIM database hosted by NIH, Orpha.net database from European Union and Globalgenes are some organizations that maintain databases of rare diseases. CSCMRD will study rare diseases with metabolic
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components including mitochondrial diseases. Objectives of the research projects will include: Objectives of the research projects covered under expansion into Rare Diseases area include:
- Discovery and systematic targeting of the metabolic components of rare diseases
- Understanding the mechanisms underlying metabolic components of genetic and chronic disease.
- Exploring palliative options such as nutritional supplements or enzyme replacements for the treatment of rare diseases.
- Uncovering relationship between common diseases and rare diseases, including participation of the recessive alleles for monogeneic disease in the development of the chronic disease phenotypes.
- Development of metabolically guided personalized approaches to the lifetime management of rare diseases
- Development of databases and computational tools to support metabolomics research.
- Development and application of technologies/products to support patients with rare diseases – particularly in low- and middle- income countries.
- Participation in the development of international best practices guidelines for diagnosis and treatment of rare diseases through comparative studies of public health policy.
- International best practices for rare disease diagnosis, treatment, and Government policies.
- Facilitate Indo-US clinical research projects to connect patients and physicians in India to global collaborators.
This cutting edge research program is constantly expanded with various collaborations.