Breakthrough in understanding presence of Lynch syndrome across cancer types in India
Using a common biomarker across 11 different tumour types to detect a common hereditary cancer predisposition syndrome, data from India's largest study shows.
Tagged “research”
First comprehensive characterisation of Niemann-Pick C disease in India
FRIGE scientists leads India's 16 year study on comprehensive clinical and molecular characterisation of an ultra-rare disorder in India.
FRIGE scientists develop India's first national biobank for Lysosomal Storage Disorders
Scientists develop and deploy India's first national biobank for rare disease- Lysosomal Storage Disorders- comprising of over 500 patients.
Breakthrough in understanding the genetic cause of severe male infertility in India
Sequencing based technology is developing a new paradigm in understanding the cause and providing tailored reproductive options to men with infertility, data from a large cohort shows.
FRIGE scientists analyse utility of prenatal diagnosis for preventing rare genetic disorders in India
Systematic analysis of data of over 1700 prenatal samples from tertiary centre during 14 year period shows ~25% babies affected with a genetic disease.
FRIGE scientists decipher role of structural variants in autism
India's first systematic and cutting-edge genetic study in 23 children with autism spectrum disorder explored the role of long-read whole genome sequencing and structural variants in the cause of autism.
FRIGE scientists discover India's first founder variant in MLH1 gene associated with Lynch syndrome
Founder variant that is observed in approximately 6.4% of all Lynch syndrome patients, the most common hereditary cancer disease, has been discovered.
FRIGE scientists analyse burden of complex chromosomal rearrangements in India
Systematic analysis of data of over 4200 couples with clinical history of repeated foetal loss from tertiary centre during 30 year period shows role of complex chromosomal rearrangements.
FRIGE part of the International Human Ring Chromosome consortium
A large international collaboration consisting of teams from USA, UK, Europe and India are working together to understand the incidence, aetiology, detection mechanisms and guideline preparation.
FRIGE scientists analyse burden of rare genetic disorders in India
Systematic analysis of data of over 3000 patients from tertiary centre during 22 year period shows 3000 patients with rare genetic diseases across 14 major disease groups.
FRIGE scientists initiate study on hereditary cancer
India's first systematic epidemiological study on the genetic contribution behind common cancers begins.
Improving understanding of the role of NEUROG1 gene in autism
A large study in Indian children with autism identified NEUROG1 to play a role in causing autism spectrum disorder together with cranial dysinnervation syndrome.
FRIGE scientists decipher genetic architecture of autism in India
India's first systematic genetic study in 101 children with autism spectrum disorder has shown a significant contribution of de novo mutation towards aetiology of ASD.
Daily resistant starch prevents cancers in Lynch syndrome patients
A randomised controlled trial in people with Lynch syndrome has shown a significant cancer prevention effect from resistant starch, found in a range of daily food items such as slightly green bananas and oats.
Breakthrough in understanding cause of male infertility
A large multinational collaboration consisting of teams from the UK, Europe, USA, Australia and India have identified a new genetic mechanism that can cause severe forms of male infertility.
Daily aspirin prevents bowel cancer in Lynch syndrome patients
Taking aspirin regularly can prevent bowel cancer in high-risk patients even after ‘20 years’, data from randomised controlled trial shows.
Mutation spectrum in autism spectrum disorders in India
Diagnosing autism spectrum disorders (ASDs) is often challenging as mutation in several genes can lead to the disease. Systematic application of latest genomic technologies could improve diagnosis and reduce cost.
Low cost diagnosis of common lysosomal storage disorders
Diagnosis of lysosomal storage disorders (LSD) is often challenging due to overlapping clinical symptoms and costly chemicals. We are developing a sequencing based assay that can diagnose over 20 LSDs simultaneously.
Next generation microsatellite instability test
Colorectal cancer, also known as bowel cancer, is the sixth most common cancer in India. National health agencies of USA, UK, France and India. recommend all bowel cancers to be tested for a specific type of “DNA spelling mistakes” called microsatellite instability or MSI for short.