Tag: Rare

Researchers identify rare inherited immune disease

When a 9-year-old girl with anemia, breathing problems, and recurrent infections sought help for her mysterious ailments, Yale researchers and their collaborators at the National Institutes of Health sequenced her genes to pinpoint a cause. What they discovered was not only a new disease but unexpected new roles for a gene that affects the immune

Governments urged to adopt compensation for rare vaccine injury

Research led by The University of Western Australia has found that that most countries with mandatory childhood vaccination policies don’t have no-fault vaccine injury compensation schemes to care for rare victims of vaccines. Lead researcher Katie Attwell, from UWA’s School of Social Sciences, said no-fault compensation schemes enabled governments to address unintended consequences of vaccination.

Toddler proves doctors who said he would never crawl wrong

Toddler with rare chromosome condition proves doctors wrong as his mother reveals he can crawl – despite being told he would never be able to Ethan Bothe, one years old, has distal chromosome 18q deletion syndrome Parents Jennifer and Kyle Bothe were told their son would never be independent He has weak muscles, stunted growth,

Team spots clue to rare lung and kidney diseases

Pulmonary-renal syndrome (PRS) refers to a group of rare but potentially fatal conditions that nearly always are caused by a misguided attack by the body’s immune system on the lungs and kidneys. Coughing up blood and blood in the urine are telltale signs. Treatment with corticosteroids and immunosuppressant drugs can be effective if begun before

Rare Variants Associated With Interval Breast Cancers

MONDAY, Dec. 3, 2018 — 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

Rare polio-like illness has US health authorities on alert

A rare disease that peaked this autumn and paralyzes its victims – mainly children – in ways similar to polio has put health authorities on alert across the United States. There is no known specific treatment for the disease, known as acute flaccid myelitis (AFM). Some patients who contracted AFM quickly recover, while others end

Brothers, 12 and 9, battling rare ‘Benjamin Button disease’

Brothers, 12 and 9, with rare ‘Benjamin Button disease’ ‘It’s a race against time’: Brothers, 13 and 9, with rare ‘Benjamin Button disease’ have captured the hearts of millions in their fight to survive Nathan and Bennett Falcone, of Erdenheim, Pennsylvania, have progeria MADB The rare rapid-ageing disease affects just three Americans, they are two

Researchers uncover molecular mechanisms of rare skin disease

Keratinocyte skin cells are common targets of the beta subtype of human papilloma virus. This usually harmless infection causes skin disease in people with rare gene mutations.[/caption] You’re probably infected with one or more subtypes of the human papilloma virus—and, as alarming as that may sound, odds are you will never show any symptoms. The

Beyoncé Gives Fans a Rare Glimpse of the Carter Twins

Beyoncé and Jay-Z aren’t private about many things, but when it comes to family life, the pair tends to keep things close to the vest. In fact, the couple is very protective of their children (what parent isn’t?). But it looks like we’re finally getting a glimpse into their current family life. On Wednesday, the

Tumors grown in the lab provide insights on rare prostate cancer

Growing miniature tumors from patient’s cells in the laboratory may help scientists personalize treatments for those with a rare form of prostate cancer, according a study by Weill Cornell Medicine and NewYork-Presbyterian scientists. Patients with prostate cancer often receive therapies that reduce levels of testosterone. Many of their tumors eventually become resistant to such hormone-reducing