Disease Programs are designed to enable pharma and biotech companies to accelerate research and drug development by leveraging the scale and diversity of South Asian populations. Disease Programs have also enabled MedGenome to build a research collaboration network with over 30+ large India hospitals.
MedGenome focuses on the disease areas mentioned below.
Annually, about 1.1 million cancers are diagnosed and nearly 500,000 people die of cancer in India. The WHO said this number is expected to rise to 700,000 by 2015. According to the WHO, lung, oral, lip, throat and neck cancers are the most common cancers in India among men, while women suffer more from cervix, breast and ovarian cancers. While the primary focus to combat cancer needs to be on cancer awareness, early detection, diagnosis, availability and affordability of treatment in all cancers, accurate diagnosis and appropriate treatment can be achieved only by understanding the molecular basis of cancers. With mutations in more than 140 genes being identified as drivers of various cancers and targeted therapies specifically engineered being implemented each year, it is the right time for India to enter the era of cancer genomics.2. MedGenome has several research projects in Oncology area:
To identify gene mutations associated with familial cancers:
From the Head and Neck Cancer study: Data was generated from 30 Fresh frozen tumor samples. The clinical and genomic data are represented in the table below:
Identification and functional implications of an ERBB2 (HER2) gene mutation in an Indian lung adenocarcinoma pedigree (2015, Manuscript in preparation).
MedGenome has collaborations with several leading cancer centers in India like SBMC Hospital in Chennai, Tamil Nadu and KCHRC in Goraj, Gujarat.
Rare genetic disorders, as the name suggest, are the diseases that occur very rarely in a population and often result from gene mutations. There is no any universal definition of rare genetic disorders but it is grossly defined by number of affected individuals in a population, disease prevalence and non-availability of the (affordable) treatments. As per WHO suggestion a disease at a frequency of 6.5-10 affected individuals per 10000 can be classified as rare disease. In USA, it is defined as any disease or condition that affects less than 200,000 persons.
There are more than 7000 known or reported rare diseases worldwide. As per Organization for Rare Diseases (ORDI), India, considering its large population, ORDI suggests a disease to be defined as rare if it affects 1 in 5,000 people or less. About 80% of rare disease are of genetic origin and often are monogenic.
With NGS approach one can identify and correlate novel mutations associated with specific rage genetic disorder. Medgenome is collaborating with different clinicians specializing in rare genetic disorders. MedGenome receives the blood/DNA samples from different sporadic or familial cases.