Pennsylvania woman with rare bone disease donates skeleton to Philadelphia museum

Carol Orzel wanted her skeleton to be displayed at Philadelphia’s Mutter Museum (pictured) alongside Harry Eastlack, who suffered the same rare bone disease that Orzel did. (AP Photo/Rusty Kennedy, File) Carol Orzel knew she wanted her skeleton to be displayed in a museum back in 1995. She had seen the skeleton of Harry Eastlack on loan from Philadelphia’s Mütter Museum, […]

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Woman diagnosed with rare blood cancer after buttock implants

Buttock implants could cause rare blood cancer: Study reveals first EVER account of a possible link just weeks after health officials blamed breast implants for 9 deaths and 457 illnesses A new study reveals a middle-aged woman who got textured gluteal implants was diagnosed with ALCL a year later ALCL (anaplastic large cell lymphoma) is a cancer of the blood […]

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Rare 'semi-identical' twins discovered during Australian woman's pregnancy

A rare set of semi-identical twins have been identified in Australia, only the second set ever reported in the world. (stock photo) A rare set of semi-identical twins — only the second set ever reported in the world — have been identified in Australia. The 4-year-old boy and girl from Brisbane share all of their mother’s DNA but only a part of their […]

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Sutimlimab shows promise for hard-to-treat, rare blood disorder

In a first-in-human clinical trial reported today in Blood, the investigational drug sutimlimab appeared to be effective in treating cold agglutinin disease, a rare chronic blood disorder for which there are currently no approved treatments. Cold agglutinin disease is caused by a malfunction in the immune system that causes antibodies—components of the immune system that are produced in the blood […]

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Ex-NFL cheerleader diagnoses own rare condition after symptoms dismissed

Ex-cheerleader diagnoses her own baffling medical condition Danielle Goldsmith, a former St. Louis Rams cheerleader, urges the public to do their own research after she solved her own strange illness which had stumped her doctors. A former NFL cheerleader is urging others to be vigilant about their health after she claims her chest pain and shortness of breath were repeatedly dismissed […]

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Rare variants associated with interval breast cancers

(HealthDay)—Though common breast cancer variants indicate increased breast cancer risk, certain rare variants are associated with an increased risk for interval breast cancers and death, according to a study published in the Nov. 1 issue of Cancer Research. Jingmei Li, Ph.D., from the Genome Institute of Singapore, and colleagues assessed whether the genetic risk stratification of breast cancer by rare […]

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South Florida girl in need of rare blood to fight cancer

A worldwide search is on to find blood donors with a rare genetic variation to help save a 2-year-old South Florida girl battling cancer. Zainab Mughal has neuroblastoma and needs life-saving transfusions. But finding compatible donors is immensely challenging, because she’s missing a common antigen most people carry in their blood, called “Indian B.” Florida-based OneBlood says the donors must […]

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Student, 26, has had FOUR hip replacements due to a rare disorder

‘I have already faced more health challenges than most will in their entire life’: Father, 26, has had FOUR hip replacements due to a rare disorder that ‘eats away at his bone’ Aaron Blocker was diagnosed with avascular necrosis in 2010 This causes his bone tissue to die due to a poor blood supply Had his first hip replacement at just […]

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On the trail of rare genetic disease, scientists uncover key immune regulator

Scientists at Scripps Research have found an important immune system-regulating protein that in principle could be targeted to treat cancers and chronic viral infections. The scientists, in a study published November 12 in Nature Chemical Biology, set out to determine the function of a protein, ABHD12, whose absence causes a rare genetic disease featuring a host of brain and nerve […]

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