Category : Search result: rare genetic condition


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.

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.

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.

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.

Baby survives rare twin absorption condition

A newborn's swollen belly revealed an extraordinary medical mystery - doctors discovered he was absorbing his twin sibling in the womb in a rare condition called fetus in fetu.

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.

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