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Maria Bitner-Glindzicz

Maria Bitner-Glindzicz was a British medical doctor, honorary consultant in clinical genetics at Great Ormond Street Hospital, and a professor of human and molecular genetics at the UCL Institute of Child Health. The hospital described her work as relating to the "genetic causes of deafness in children and therapies that she hoped would one day restore vision." She researched Norrie disease and Usher syndrome, working with charities including Sparks and the Norrie Disease Foundation, and was one of the first colleagues involved in the 100,000 Genomes Project at Genomics England.

Education
Bitner-Glindzicz attended Rendcomb College, a boarding school in Gloucestershire, while her parents lived in Hong Kong. She received her medical (MBBS) degree from University College London in 1987, also achieving a first-class intercalated degree. She began to consider a career in clinical genetics upon qualifying, later going on to complete a PhD funded through an MRC Clinical Research Fellowship. Her research interests were the genetic causes of deafness in children and adults, such as Norrie disease and Usher syndrome. == Career ==
Career
Her research group at the UCL Institute of Child Health, in collaboration with others in Europe, identified a number of genes responsible for syndromic and non-syndromic forms of deafness, including X-linked deafness, the cardio-auditory syndrome, and Usher syndrome. Their research explored the expression and functional effects of mutations identified in these genes in patients in order to understand how they give rise to disease. Bitner-Glindzicz's work on Usher syndrome initiated the National Collaborative Usher Study, a large clinical and molecular study of people with Usher syndrome in the UK, in collaboration with Karen Steel at the Wellcome Trust Sanger Institute. In addition, she was interested in ototoxicity and the mechanisms and genetic basis of this, exploring whether near-bedside genetic testing for mutations predisposing to ototoxicity was feasible. Her work led to improvements in clinical services for patients, including more comprehensive molecular diagnosis for deafness, and specialist clinics in and around London. == Death ==
Death
At 11:30 BST on 19 September 2018, Bitner-Glindzicz was cycling along St John Street in the Borough of Islington when she was struck by an opened door of a stationary van. This caused her to be knocked off her bike, subsequently being hit by a taxi in the process of overtaking her, dragging her 18m down to road. Following an inquest in to the death of Bitner-Glindzicz, senior coroner Mary Hassell stated, "She was cycling in a safe and steady manner wearing a helmet and fluorescent strap. Her bike was in good condition. The van driver didn't look before opening the driver's door sharply. The result was either that Professor Bitner-Glindzicz has to swerve suddenly, or that she was sideswiped. In either event, the opening of the door caused her to fall under the wheels of a black cab overtaking." == Personal life ==
Personal life
Maria Bitner-Glindzicz lived in London. She was married to professor of medical oncology David Miles, with one daughter and one son. == References ==
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