Scientists map the genetic make-up of 363 bird species 

The genetic make-up of 363 species of bird – ranging from the humble chicken to the amazing bird-of-paradise – has been mapped by scientists for the first time. The work, by researchers from the Smithsonian Institute and about 100 other institutions involved analysing over 17 trillion base pairs of DNA from bird species. Researchers say … Read more

NIH scientists discover rare genetic inflammatory condition in men

Hundreds of men may be living with a potentially deadly condition just discovered by National Institutes of Health (NIH) scientists.  The new disease, dubbed VEXAS, causes recurring blood clots, fevers, inflammation and lung damage – in men, specifically.  NIH researchers began seeing a trickle  of men with the strange network of symptoms (which, oddly, but … Read more

Dazzling golden turtle with ultra-rare genetic mutation is spotted in Nepal

A turtle ‘revered as an incarnation of the Hindu god Vishnu’ is spotted in Nepal with a dazzling golden shell due to an ultra-rare genetic mutation Unique colouration is caused by ultra-rare genetic form of chromatic leucism Causes when xanthophores — cells that are yellow — become dominant  Only fifth time a golden specimen of … Read more

Four-year-old boy with rare genetic condition is told he can’t return to school

A four-year-old boy with a rare genetic disorder will not be permitted to attend school in September despite posing no greater risk than other children in catching and spreading Covid-19. Victoria Henry-Macklin, 46, from Cheshunt, Hertfordshire, is calling on ministers to intervene after she was told her son Ryan Henry-Macklin, who has Treacher-Collins Syndrome, will … Read more

Four-year-old boy with rare genetic condition is told he can’t return to school

A four-year-old boy with a rare genetic disorder will not be permitted to attend school in September despite posing no greater risk than other children in catching and spreading Covid-19. Victoria Henry-Macklin, 46, from Cheshunt, Hertfordshire, is calling on ministers to intervene after she was told her son Ryan Henry-Macklin, who has Treacher-Collins Syndrome, will … Read more

Woman with rare genetic condition wears ‘space helmet’ to protect her skin from the sun

A woman with a rare genetic condition has shared how she wears a mask that looks like a ‘space helmet’ to protect her skin from damaging UV rays – and hasn’t left the house without it for 20 years.  At just two-years-old, Fatima Ghazaoui, 28, from Mohammedia, Morocco, was diagnosed with the rare skin condition Xeroderma … Read more

Woman with rare genetic condition wears ‘space helmet’ to protect her skin from the sun

A woman with a rare genetic condition has shared how she wears a mask that looks like a ‘space helmet’ to protect her skin from damaging UV rays – and hasn’t left the house without it for 20 years.  At just two-years-old, Fatima Ghazaoui, 28, from Mohammedia, Morocco, was diagnosed with the rare skin condition Xeroderma … Read more

Baby girl born with no limbs due to rare genetic disorder leaves doctors and family baffled in India

Baby girl born with no arms or legs due to a rare genetic disorder leaves doctors and family baffled in India Mother, reported to be 28, gave birth to a baby girl with no limbs yesterday  She was born in the Sakla village of Sironj Tehsil in the Vidisha district of India  Has rare genetic … Read more

Neanderthals’ low genetic diversity may have caused their extinction, study suggests

Neanderthals’ low genetic diversity may have caused their extinction by hampering their ability to adapt to environmental changes, a study has suggested.  Experts studied variations in the upper neck bone of Neanderthals found in Spain and Croatia — the proliferation of which is associated with low genetic diversity. A varied gene pool confers evolutionary strength, … Read more

Family of man,24,with rare genetic disease told to buy his PPE for his NHS-funded carers 

The family of a disabled man say they have been ‘completely forgotten about’ after they were told to source protective equipment for his NHS-funded carers themselves – despite inflated prices and quality concerns. Cameron Harrison, 24, from North Hertfordshire, who is blind, has limited hearing, is unable to speak, uses a wheelchair and is tube-fed, has … Read more