FRIGE part of the International Human Ring Chromosome consoritum
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.
Chromosomes are condensed structures of the DNA, a compact set of instructions carrying 6 billion letter genetic code. Change in structure of chromosomes can lead to different genetic diseases.
Human chromosomes in rare instances can curl up on themselves by sticking their two ends together, to form a ring chromosome. These chromosomes are extremely rare but they have an impact on disease diagnosis and treatment.
The International Consortium for Human Ring Chromosomes (ICHRC) was started by Prof. Peining Li and Prof. Thomas Leihr 60 years ago. Today, Dr. Frenny Sheth is not only a part of the ICHRC but is the lead for entire south east Asia for the consortium.
The ICHRC prepared the largest and most comprehensive compendium of all ring chromosomes in a book titled- Human Ring Chromosomes. Dr. Frenny Sheth together with Dr. Harsh Sheth, wrote a chapter for ring chromosomes encompassing chromosome 6.
The chapter is a practical guide to clinicians, families and genetic counsellors on the phenotypes, modes of diagnosis and longitudinal outcomes in cases where ring chromosome 6 were observed.
