Father and son die from same rare genetic syndrome
A mother from Kent shares her heartbreaking story after losing her husband and son to Alagille Syndrome. She now runs a bereavement group to support others. Read her powerful message.
Category : Search result: rare genetic disease
Father and son die from same rare genetic heart syndrome
A mother from Kent speaks out after her husband and son died from Alagille Syndrome, a rare genetic disorder. She now runs a bereavement group to support others. Read her story.
Jesy Nelson twins diagnosed with rare genetic disease SMA
Pop star Jesy Nelson reveals her newborn twins have spinal muscular atrophy. Learn the early signs of SMA Type 1 and why early diagnosis is crucial for treatment.
Jesy Nelson twins diagnosed with rare genetic disease
Pop star Jesy Nelson reveals her newborn twins have spinal muscular atrophy. Learn the early warning signs of SMA Type 1 and why early diagnosis is crucial.
Girl, 6, paralysed after surgery for rare spinal condition
A mother's story of her daughter's rare spinal AVM diagnosis and the life-saving surgery that left her paralysed. Follow Sofia's journey of rehabilitation and hope.
Girl, 6, paralysed after surgery for rare spinal condition
Sofia Hill, 6, was diagnosed with a rare genetic disorder. Life-saving surgery left her paralysed. Her family shares their story of hope and intensive rehabilitation.
Jesy Nelson's Twins Diagnosed with Spinal Muscular Atrophy
Former Little Mix star Jesy Nelson reveals her eight-month-old twin daughters have been diagnosed with Spinal Muscular Atrophy. The singer shares her emotional journey and vows to be their ultimate role model.
Jesy Nelson's twins diagnosed with Spinal Muscular Atrophy
Former Little Mix star Jesy Nelson reveals her twin daughters have SMA, a rare genetic condition. Learn about the symptoms, treatments, and the urgent call for UK newborn screening.
Jesy Nelson's twins diagnosed with Spinal Muscular Atrophy
Former Little Mix star Jesy Nelson reveals her twin daughters have SMA, a rare genetic condition. Learn about the diagnosis, treatment, and the urgent call for UK-wide newborn screening.
Jesy Nelson's twins diagnosed with rare SMA disease
Former Little Mix star Jesy Nelson reveals her newborn twins have SMA Type 1. Experts explain the crucial early warning signs of this rare genetic condition that all parents should watch for.
Jesy Nelson's twins diagnosed with rare Spinal Muscular Atrophy
Former Little Mix star Jesy Nelson reveals her six-month-old twin girls have been diagnosed with severe Type 1 Spinal Muscular Atrophy (SMA). Learn about the symptoms, life expectancy, and NHS treatments for this rare genetic condition.
Jesy Nelson's twins diagnosed with SMA
Former Little Mix star Jesy Nelson shares devastating health news about her eight-month-old twin daughters, diagnosed with the genetic condition Spinal Muscular Atrophy. Learn about SMA and the family's journey.
Jesy Nelson reveals twin daughters' SMA diagnosis
Former Little Mix star Jesy Nelson shares emotional health update after her eight-month-old twins, Ocean and Story, are diagnosed with Spinal Muscular Atrophy. Learn about the condition and the family's journey.
Gene editing breakthroughs need a new social contract
Rapid advances in gene editing, like the recent sickle cell treatment, require a new social contract to ensure equitable access and ethical governance. Read our analysis.
Christmas Disease: The Rare Bleeding Disorder Explained
Contrary to its festive name, Christmas Disease is a rare inherited bleeding disorder. Learn about its history, symptoms, and how patients can lead healthy lives with proper treatment.
GMB: Kate Garraway comforts guest after mum's kidney death
Good Morning Britain's Kate Garraway offered heartfelt support to guest Genieva Owens, who lost her mum to kidney failure linked to a genetic risk. The interview highlights urgent calls for APOL1 gene screening in Black communities. Read the full story.
'Rusting' Brain Flaw Found in Childhood Dementia
A single genetic error causing brain cells to 'rust' has been identified in devastating childhood dementia. This breakthrough offers new hope for treatments in Alzheimer's and other neurodegenerative diseases. Read the full story.
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.
Genome sequencing helps diagnose rare child condition earlier
A breakthrough NHS study reveals whole genome sequencing is diagnosing rare genetic conditions in children two years sooner, transforming care for families like Nathaniel's in London.
UK boy is only person in world with deadly condition
Oli-Jay Morris, 2, is the only known person with a unique gene mutation. His family are fundraising £14,000 for a personalised treatment plan to save his life.
Mark Riddell's tearful reveal about daughter's rare disease
Rugby league star Mark Riddell breaks down discussing daughter Ava's Ogden Syndrome, affecting just four children in Australia. Read his inspiring family story.
Hitler's rare genetic sexual disorder uncovered
New DNA analysis reveals Adolf Hitler had Kallmann syndrome, a rare genetic condition impacting puberty. Discover the findings and what it means.
Boy, 4, diagnosed with rare childhood dementia
A Swansea mum is in a desperate race against time after her four-year-old son Tate was diagnosed with Sanfilippo Syndrome, a rare and terminal childhood dementia.
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.
Daily Exercise Can Beat Heart Disease Symptoms
New research reveals how moderate daily activity can significantly reduce coronary heart disease risk and symptoms. Discover the life-changing benefits of consistent exercise for your heart health.
Bullied for weight: Teen's rare genetic disorder revealed
A mother reveals how her daughter endured cruel bullying for years before doctors discovered her weight struggles were caused by rare Bardet-Biedl syndrome, exposing the hidden reality of genetic disorders.
Cancer detection breakthrough spots genetic risks early
Groundbreaking research reveals new method to identify cancer-causing genetic changes early, potentially revolutionising preventative care and saving thousands of lives through timely intervention.
NFL's Nick Mangold reveals kidney disease diagnosis
Former New York Jets centre Nick Mangold reveals his private health struggle with kidney disease in an emotional interview, sharing his journey from NFL glory to facing a life-changing diagnosis.
Isabelle Tate: 911 call reveals rare disease tragedy
Exclusive insight into the final moments of Isabelle Tate's life and the devastating impact of Charcot-Marie-Tooth disease that led to the Nashville 911 tragedy.
Child's battle with rare disease stealing her ability to walk
The heartbreaking story of Isabelle Tate, a young girl from England fighting Charcot-Marie-Tooth disease, a rare genetic condition threatening her ability to walk and enjoy a normal childhood.
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