Rare Genomics Institute - giving free genomic solutions to people affected by rare diseases

An estimated 250 million people worldwide suffer from rare diseases. However, because each individual disease affects such a small number of people, little funding is used to study these conditions. Consequently, these patients are left with neither hope of a cure nor understanding of the disease. Each day is a living struggle for them to find a social identity in a world where they feel socially neglected and lost. Because most rare diseases are genetic in nature, it is believed that genome sequencing has the power to help these patients in a way that conventional diagnostics cannot. However, most families affected with rare diseases are under financial strain, making access to such technologies difficult. To address this need, an institute called Rare Genomics Institute has been established.

Next Generation Genomics Lecture at CPMB

Tissue Biopsy for cancer detection may disappear soon: Genomic method of cancer detection

Tissue Biopsy for cancer detection may disappear soon: Simple blood plasma assay (a liquid biopsy) may be the method of cancer detection in future


Blood plasma,  the straw-colored liquid component of blood that normally holds the blood cells in whole blood in suspension contains dissolved proteins, glucose, clotting factors, mineral  ions,  hormones  and carbon dioxide and DNA. Plasma of cancer patients contains cell-free tumor DNA that carries information on tumor mutations and tumor burden. Though individual mutations have been probed earlier, for the first time a method has been  developed  ( by a team of researchers from UK) for tagged-amplicon deep sequencing (TAm-Seq) which resulted in  screening  5995 genomic bases for low-frequency mutations. Using this method they  identified cancer mutations present in circulating DNA at allele frequencies as low as 2%, with sensitivity and specificity of >97%.They identified mutations throughout the tumor