All the updated news related to genetic condition

All the news related to genetic condition updated in real time

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Health

Mum whose daughter is only person with two genetic mutations making her life expectancy unknown says she is “happiest girl on the planet”

A mum claims her daughter is the “happiest girl on the planet” despite living under a huge question mark as the seven-year-old is the only person in the world with two genetic mutations which mean no one knows her life expectancy. It took more than ...

23 Mar 2022 at 08:25

Newborns screened for genetic conditions in ‘world-leading’ NHS research

Up to 100,000 newborn babies in England are to be screened for dozens of genetic conditions as part of “world-leading research” in the NHS. The Generation Study, led by Genomics England in partnership with NHS England, will see newborn babies ...

03 Oct 2024 at 00:01

Health & Wellbeing

What is Fragile X syndrome and how do you know if you carry it?

GPs are being urged to test patients for a genetic condition that can cause learning disabilities and increase the risk of early menopause. Fragile X Society, the charity leading this call to action, is concerned about the lack of awareness ...

10 Oct 2024 at 06:00

NHS to screen newborns in England for rare genetic disorder

Newborn babies in England will be routinely screened for a rare genetic condition that can cause long-term health problems if left untreated, officials have announced. Hereditary tyrosinaemia type 1 (HT1) affects around seven babies a year ...

14 Oct 2025 at 16:18

Family

‘I’d still be none the wiser’, says man born with cystic fibrosis but not diagnosed until 40s after fertility struggles

A man born with cystic fibrosis but not diagnosed until his 40s has said he would “still be none the wiser” about his condition if he had not experienced fertility struggles. Simon Wade said his life “changed forever” in February 2023, ...

19 Aug 2025 at 06:55

Family

Mother of girl, seven, who suffers from rare genetic condition hopes she will be home for Christmas this year

The mother of a seven-year-old girl who suffers from a rare genetic condition has spoken of her hopes that she will be home for Christmas. Zarwa Kakar, who lives in London, has geleophysic dysplasia, a rare type of dwarfism that only ...

11 Dec 2025 at 06:55

Health

Mother whose non-verbal daughter was born with rare genetic disorder says future is ‘too heart-wrenching’ to think about

A mother whose daughter was born with a rare chromosome disorder meaning she is non-verbal and has scoliosis along with a painful nerve condition said it is “too heart-wrenching” to think about the future. Stella Tikkirou and her ...

25 Nov 2025 at 06:30

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