Category : Search result: rare genetic disorder


Genome Sequencing Speeds Up Rare Disease Diagnosis in Kids

A breakthrough NHS study reveals whole-genome sequencing provides diagnoses for rare genetic conditions two years earlier, offering families crucial answers and access to care. Read the inspiring story of three-year-old Nathaniel.

Celine Dion's Thanksgiving health update

Celine Dion delivers a positive health update on Instagram, sharing a heartfelt Thanksgiving message with fans while battling Stiff Person Syndrome. Discover her inspiring journey.

Hitler DNA analysis reveals genetic disorder

New DNA analysis of Adolf Hitler confirms a genetic disorder affecting his sexual development and suggests neurodiverse conditions. Read the full story on the Channel 4 documentary findings.

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.

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