Breakthrough in understanding Warsaw breakage syndrome

Researchers have uncovered a previously unknown function of the DDX11 helicase enzyme. Mutations in the gene which codes for DDX11 are known to be implicated in Warsaw Breakage Syndrome. They showed that DDX11 plays an important role in DNA repair, and functions as a backup to the Fanconi Anemia (FA) pathway, whose malfunction is associated with another life-debilitating condition.
Source: Science Daily

Man with Down's Syndrome shot dead by Swedish police after running away from home with toy gun 

Man with Down's Syndrome shot dead by Swedish police after running away from home with toy gun A man with Down’s Syndrome has been shot dead by Swedish police after running away from home in the middle of the night carrying a toy gun. Eric Torell, 20, who was autistic and was described by his family as being severely disabled, was fatally shot by police who erroneously believed he was carrying a real weapon in the early hours of Thursday morning in downtown Stockholm. Police officers say Mr Torell acted “threateningly” after responding to reports of a man showing a gun to residents at around 4am local time in the district of Vasastan. He died of his injuries after being shot in the stomach. One witness, who was awoken by the sound of several gunshots, said they heard police shouting at someone to lay down his weapon and lie on the ground. Mr Torell had been staying with his father when he wandered out of his home with the toy gun his mother, Katarina Söderber, said looked like a “submachine gun”. Eric Torell was shot dead by police  “He got it as a gift. It looked a little like a submachine gun. Until now it was just thrown in a pile of toys,” Ms Söderber told Swedish newspaper Expressen. She reacted angrily to the suggestion her son may have acted threateningly, describing her son as “the world’s sweetest and most lovable person”, adding he could only say a few words like ‘mum’ due to his speech difficulties. Eric Torell was shot dead by a police patrol in the residential neighbourhood of Vasastan around 4am Credit: AFP Ms Söderber compared her son to “being like a three-year-old”, adding he had been reported missing after leaving home in the night. “It’s impossible to understand. He wouldn’t hurt a fly,” she said [translated]. Katarina Söderberg (R), mother of Eric Torell, speaking to the Expressen  Ms Söderber added that her son had left home unannounced on previous occasions but had always returned.   His father, Rickard Torell, told Expressen he went out to search for his son when he realised he was missing.   Mr Torell paid tribute to his son who he described as the “friendliest and most loving person in the world”.  A bullet hole is seen at a bicycle at the site  Credit: AFP Sweden’s Public Prosecutor’s Office confirmed a routine preliminary investigation into possible police misconduct has been launched. Police said they would not speculate on the case until the investigation is complete. Stockholm police chief Ulf Johansson called the shooting “a terrible event.”


Source: Yahoo! News

Corey Lewandowski on undocumented child with Down syndrome separated from mother: 'Womp womp'

  1. Corey Lewandowski on undocumented child with Down syndrome separated from mother: ‘Womp womp’  CNN
  2. Corey Lewandowski Dismisses Girl With Down Syndrome Separated From Mother: ‘Womp, Womp’  HuffPost
  3. Lewandowski says ‘womp womp’ at story of young girl being separated from mother at border  The Hill (blog)
  4. Full coverage


Source: Google News

Corey Lewandowski Dismisses Girl With Down Syndrome Separated From Mother: 'Womp, Womp'

  1. Corey Lewandowski Dismisses Girl With Down Syndrome Separated From Mother: ‘Womp, Womp’  HuffPost
  2. Lewandowski says ‘womp womp’ at story of young girl being separated from mother at border  The Hill (blog)
  3. Corey Lewandowski Draws Outrage After Mocking Separated Immigrant Family: “Womp Womp”  Hollywood Reporter
  4. Full coverage


Source: Google News

Corey Lewandowski mocks child with Down syndrome taken from mom at border

  1. Corey Lewandowski mocks child with Down syndrome taken from mom at border  Mashable
  2. Corey Lewandowski Draws Outrage After Mocking Separated Immigrant Family: “Womp Womp”  Hollywood Reporter
  3. Lewandowski says ‘womp womp’ at story of young girl being separated from mother at border  The Hill (blog)
  4. Full coverage


Source: Google News

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Targeted therapy in patients with PIK3CA-related overgrowth syndrome, Published online: 13 June 2018; doi:10.1038/s41586-018-0217-9

A PI3KCA inhibitor reverses symptoms in a mouse model of PROS/CLOVES syndrome, which results from gain-of-function mutations in PI3KCA, and produces improvements in patients with PROS/CLOVES syndrome.
Source: Nature