When a 3-year-old New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form: a golden retriever named Yammy. Susan Bresnahan’s son, Patrick, was born in 2020 during ...

Several rare immune disorders are caused by mutations in the ... The multidisciplinary team looked at a genetic mutation called biallelic PI4KA, which impacts B cells in the body (the ones that ...

Department of Biotechnology (DBT) – Centre for DNA Fingerprinting and Diagnostics (CDFD), in the forefront of the Mission Programme on Paediatric Rare Genetic Disorder (PRGeD), has so far ...

Lucy Landman was born with a very rare genetic disorder that causes severe intellectual disability, weak muscles and seizures, among other symptoms. “She is expected to very much never be able to live ...

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

The Centre for DNA Fingerprinting and Diagnostics (CDFD) will hold an event on January 2 to highlight the mission programme on paediatric rare genetic disorder (PRaGeD), a nationwide study aimed ...

As part of its ongoing research on paediatric rare genetic disorder (PraGeD), CDFD has brought onboard 1,493 patients to discover and characterise new gene variants, provide counselling ...