Category : Search result: rare genetic disorder


UK toddler first in world with unique genetic condition

In an extraordinary medical breakthrough, 19-month-old Oscar Sparrow from West Midlands has been identified as the only person worldwide living with a never-before-seen genetic mutation, offering new hope for rare disease research.

Mum with rare dementia forgets children's names

The devastating story of Sarah, a mother with rare dementia who can no longer recognise her own children, as her family fights for access to revolutionary treatment that could save her.

Boy, 11, wakes up unable to walk or speak

A mother's terrifying ordeal as her healthy son suddenly develops rare neurological condition ADEM, sparking urgent NHS investigation into childhood illness.

Teen's death from rare Charcot-Marie-Tooth disease

The heartbreaking story of Isabelle Tate, a vibrant teenager whose life was cut short by the little-known genetic condition Charcot-Marie-Tooth disease, sparking urgent calls for greater awareness and research funding.

Daughter's rare condition breaks hearts daily

Exclusive: The heartbreaking story of a family coping with their daughter's rare Cri Du Chat syndrome, revealing the daily challenges and emotional toll of caring for a child with complex needs.

Rare 50p Coin Sells for £113 at Auction

A scarce 2009 Kew Gardens 50p coin has sold for over double its face value in a recent auction, sparking renewed interest in coin collecting across the UK.

Woman speaks with Thai accent after stroke

A Hampshire woman developed Foreign Accent Syndrome after suffering a stroke, causing her to speak with a Thai accent despite never visiting Thailand. Medical experts explain this rare neurological condition.

NHS screens thousands for hidden genetic disorder

The NHS is rolling out a groundbreaking genetic testing programme to identify thousands of Britons with undiagnosed hereditary haemochromatosis - a dangerous iron overload condition that can cause organ damage if untreated.

Gene Therapy Breakthrough for Autism & Epilepsy

British scientists pioneer revolutionary gene therapy treatment showing remarkable results in children suffering from debilitating SYNGAP1 syndrome, a rare genetic condition causing severe autism, epilepsy and developmental delays.

America's Most Inbred Family: The Whittaker Story

An investigative journey into the lives of the Whittakers, known as America's most inbred family, uncovering their isolated existence and the genetic consequences of generations of intermarriage.

Woman wakes from coma speaking fluent French

In an extraordinary medical case, Lisa Millar from Largs, Scotland, awoke from a two-week coma speaking fluent French despite barely remembering the language since school. Doctors are baffled by this rare phenomenon of Foreign Accent Syndrome.

DNA Database Controversy Sparks Privacy Concerns

Conservative commentator Charlie Kirk's alarming claim about Utah's DNA collection practices sparks debate over genetic privacy rights and government overreach in criminal investigations.

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