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Category: Rare genetic disease

Posted on August 11, 2018August 11, 2018

IGIB team finds a new target to reverse iron overload disease

IGIB researchers have discovered a pathway that regulates hepcidin hormone production. The hepcidin hormone is a central regulator of iron in the body, and its dysregulation can lead to anaemia…

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Posted on February 10, 2018

IGIB team partially reverses a rare disease

Researchers at IGIB have demonstrated that zebrafish can be used an animal model to study Rubinstein Taybi Syndrome (RSTS) in humans. They were able to partially reverse the disorder using…

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Posted on September 11, 2016September 12, 2016

Indian researchers turn to zebrafish to study microvillus inclusion disease

Indian researchers have finally found an ideal animal model to study microvillus inclusion disease (MVID) that may affect children born out of consanguineous marriages and to screen potential drugs to…

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Posted on July 23, 2016September 19, 2016

Zebrafish provide insights into a rare human disease

Scientists from the Delhi-based CSIR-Institute of Genomics and Integrative Biology are a step closer to bringing hope to children born with a rare disorder — CHARGE syndrome — if the…

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Posted on July 9, 2016July 13, 2016

Screening for rare genetic disorders becomes easier

Fast and accurate diagnosis of disease-causing mitochondrial genetic mutations is now possible thanks to automation of the entire process of data analysis and interpretation by a team of researchers at…

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