By Samachar Vishesh
News
Chandigarh 31st October:- Dr. Rajendra Prasad, ex-Prof. & Head, Department of
Biochemistry, PGIMER, Chandigarh, delivered “Dr. V. R. Khanolkar Oration” of
National Academy of Medical Sciences (NAMS) at Mahatma Gandhi Medical College,
Puducherry. This is a prime oration of NAMS in the memory of Dr. V.
R. Khanolkar who was the father of Pathology and medical research in India. Dr.
Rajendra Prasad delivered a talk on ‘Molecular and functional basis of cystic
fibrosis: Genetic, diagnostic and therapeutic implications’. Cystic fibrosis is
a severe autosomal recessive genetic disorder of chloride conductance due to the
mutation present in the CFTR gene. CF is associated with variety of spectrum of
phenotypes i.e. respiratory tract infections, pancreatic insufficiency,
meconium ileus and male infertility due to congenital absence of vas deferens.
It is very common in European population with prevalence of 1:2500 with carrier
frequency in 1:25.
At
PGIMER, Chandigarh, cystic fibrosis patients were diagnosed clinically,
biochemically alongwith genetic analysis. A wide spectrum of mutations were
found. However, DF508 mutation was most common mutation in the Indian
population. Identified novel mutations were also functionally characterized to
elucidate the underlying molecular and cellular defect. Recently developed
magic molecules (correctors and potentiators) were used to restore
the functional activity of underlying defect for the treatment of cystic
fibrosis. It is worthy to mention here that these molecules are also FDA
approved and in use for human clinical trials for the treatment of cystic
fibrosis.
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