rare

Telangana govt hospital doctors perform liver transplantation on patient suffering from Marfan’s and rare syndrome

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Telangana govt hospital doctors perform liver transplantation on patient suffering from Marfan’s and rare syndrome

Osmania General Hospital doctors from multiple specialisations coordinated to perform liver transplantation on a patient suffering from Marfan’s syndrome and hepatopulmonary syndrome (HPS). The image is used for representative purposes only. | Photo Credit: NAGARA GOPAL In a medical breakthrough, doctors at Telangana government-run Osmania General Hospital (OGH) in Hyderabad have successfully performed a liver … Read more

China curbs export of 7 rare elements; what’s their use?

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China curbs export of 7 rare elements; what’s their use?

Amid an escalating trade war with the US and deepening uncertainties, China has placed export restrictions on seven rare earth elements that are crucial for the global tech, medical, defence, and energy industries. What are these rare elements? What’s their use? And which other countries produce them? Let’s have a closer look. These medium and … Read more

Devon woman with rare condition praises genetic testing service

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Devon woman with rare condition praises genetic testing service

Anna Varle BBC South West health correspondent BBC A woman born with an extremely rare genetic skin condition has two healthy children using a genetic testing service. A woman born with an extremely rare genetic skin condition has had two healthy children using a cutting-edge genetic testing service. Georgina Burrough, of Axminster, Devon, has Ichthyosis … Read more

Gene therapy experiment treats rare childhood blindness

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Gene therapy experiment treats rare childhood blindness

Smitha Mundasad Health reporter Moorfields Hospital Jace, 6, was born with a rare and aggressive eye condition An experimental trial of gene therapy has helped four toddlers – born with one of the most severe forms of childhood blindness – gain “life-changing improvements” to their sight, according to doctors at Moorfields Eye Hospital in London. … Read more

Rare disease patients and advocacy groups appeal to PM Modi for sustainable funding for treatment

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Rare disease patients and advocacy groups appeal to PM Modi for sustainable funding for treatment

A view of the Indira Gandhi Institute of Child Health in Bengaluru where facilities are offered for treatment for rare diseases. | Photo Credit: The Hindu Several families of children suffering from rare diseases and patient advocacy groups (PAGs) have appealed to Prime Minister Narendra Modi and Union Health Minister J.P. Nadda to remove the … Read more

Girl’s life saved by pioneering study of rare diseases

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Girl’s life saved by pioneering study of rare diseases

Lisa Hawker The family of a young girl say her life was saved after a pioneering study was able to diagnose her incredibly rare genetic disorder, leading to better treatment. Jaydi Hawker, 11, has a form of dwarfism thought to affect fewer than 50 people in the world. There are thousands of such genetic disorders … Read more

First newborns join screening for more than 200 rare diseases

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First newborns join screening for more than 200 rare diseases

BBC Dominika’s one-day-old daughter Emilia is part of the screening programme The entire genetic code of up to 100,000 newborn babies in England will be analysed by the NHS, with the aim of speeding up the diagnosis and treatment of more than 200 rare diseases. At present, newborns are given a heelprick blood test that … Read more