Maria Bitner-Glindzicz (26 June 1963 – 20 September 2018) was a British medical doctor, honorary consultant in

clinical genetics Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to m ...

Great Ormond Street Hospital Great Ormond Street Hospital (informally GOSH, formerly the Hospital for Sick Children) is a children's hospital located in the Bloomsbury area of the London Borough of Camden, and a part of Great Ormond Street Hospital for Children NHS F ...

, and a professor of human and

molecular genetics Molecular genetics is a branch of biology that addresses how differences in the structures or expression of DNA molecules manifests as variation among organisms. Molecular genetics often applies an "investigative approach" to determine the st ...

at the

UCL Institute of Child Health The UCL Great Ormond Street Institute of Child Health (ICH) is an academic department of the Faculty of Population Health Sciences of University College London (UCL) and is located in London, United Kingdom. It was founded in 1946 and together ...

. 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 Norrie disease is a rare X-linked recessive genetic disorder that primarily affects the eyes and almost always leads to blindness. It is caused by mutations in the Norrin cystine knot growth factor gene, also referred to as Norrie Disease Pseudog ...

and

Usher syndrome Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes result ...

, working with charities including Sparks and the Norrie Disease Foundation, and was one of the first colleagues involved in the

100,000 Genomes Project The 100,000 Genomes Project is a now-completed UK Government project managed by Genomics England that is sequencing whole genomes from National Health Service patients. The project is focusing on rare diseases, some common types of cancer, and i ...

Genomics England Genomics England is a company wholly owned by the United Kingdom's Department of Health and Social Care. Established in 2013, it was tasked with delivering the 100,000 Genomes Project, a pioneering initiative that sequenced 100,000 genomes fro ...

. She died after she was

doored Dooring is the act of opening a motor vehicle door into the path of another road user. Dooring can happen when a driver has parked or stopped to exit their vehicle, or when passengers egress from cars, taxis and rideshares into the path of a cy ...

by a van and then hit by a taxi in London.

Education

Bitner-Glindzicz attended

Rendcomb College Rendcomb College is a public school (English private boarding and day school) for pupils aged 3–18, located in the village of Rendcomb five miles north of Cirencester in Gloucestershire, England. Rendcomb College was founded in 1920 by ...

, a boarding school in

Gloucestershire Gloucestershire ( , ; abbreviated Glos.) is a Ceremonial counties of England, ceremonial county in South West England. It is bordered by Herefordshire to the north-west, Worcestershire to the north, Warwickshire to the north-east, Oxfordshire ...

, while her parents lived in Hong Kong. She received her medical (MBBS) degree from

University College London University College London (Trade name, branded as UCL) is a Public university, public research university in London, England. It is a Member institutions of the University of London, member institution of the Federal university, federal Uni ...

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

and

Career

Her research group at the

, in collaboration with others in Europe, identified a number of genes responsible for syndromic and non-syndromic forms of deafness, including

X-linked Sex linkage describes the sex-specific patterns of inheritance and expression when a gene is present on a sex chromosome (allosome) rather than a non-sex chromosome ( autosome). Genes situated on the X-chromosome are thus termed X-linked, and ...

deafness, the cardio-auditory syndrome, and

. 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

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 The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit organisation, non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust. It is l ...

. In addition, she was interested in

ototoxicity Ototoxicity is the property of being toxic to the ear (''oto-''), specifically the cochlea or auditory nerve and sometimes the vestibular system, for example, as a side effect of a drug. The effects of ototoxicity can be reversible and tempora ...

and the mechanisms and genetic basis of this, exploring whether near-bedside

genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...

for

mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...

s 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. These included genetic deafness clinics at

and the

Royal National Throat Nose and Ear Hospital The Royal National Throat, Nose and Ear Hospital (the RNTNEH) was a health facility on Gray's Inn Road in London. It closed in October 2019 when services transferred to the new Royal National ENT and Eastman Dental Hospitals on Huntley Street, L ...

, as well as a joint sensory clinic for patients with dual sensory impairment at the

National Hospital for Neurology and Neurosurgery The National Hospital for Neurology and Neurosurgery (informally the National Hospital or Queen Square) is a neurological hospital in Queen Square, London. It is part of the University College London Hospitals NHS Foundation Trust. It was the f ...

with Linda Luxon,

Andrew Webster, Andrew is the English form of the given name, common in many countries. The word is derived from the , ''Andreas'', itself related to ''aner/andros'', "man" (as opposed to "woman"), thus meaning "manly" and, as consequence, "brave", "strong", "c ...

and representatives from

Sense A sense is a biological system used by an organism for sensation, the process of gathering information about the surroundings through the detection of Stimulus (physiology), stimuli. Although, in some cultures, five human senses were traditio ...

. Bitner-Glindzicz was one of the earliest colleagues to be involved with the

. She published over 175 articles on her research. Alongside her clinical and research work, she supported charities including Sparks and was the driving force behind the setting up of the Norrie Disease Foundation. She was described by

as a genuine advocate for her patients and an articulate voice who tirelessly pushed for greater support for children affected by sight and hearing impairments.

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. Bitner-Glindzicz died of multiple injuries at the

Royal London Hospital The Royal London Hospital is a large teaching hospital in Whitechapel in the London Borough of Tower Hamlets. It is part of Barts Health NHS Trust. It provides district general hospital services for the City of London and Tower Hamlets and sp ...

the next day. On 1 April 2019, the driver of the van was charged with opening his door so as to "injure or endanger" and was due to appear at

Highbury Corner Highbury is an area of North London, England, in the London Borough of Islington. Highbury Manor Highbury was once owned by Ranulf, brother of Ilger, and included all the areas north and east of Canonbury and Holloway Roads. The manor hou ...

Magistrates' Court A magistrates' court is a lower court where, in several Jurisdiction (area), jurisdictions, all criminal proceedings start. Also some civil matters may be dealt with here, such as family proceedings. Courts * Magistrates' court (England and Wales) ...

later in the month. The driver of the van died in his sleep two days before the court case, leading to proceedings being discontinued. Following an inquest in to the death of Bitner-Glindzicz, senior

coroner A coroner is a government or judicial official who is empowered to conduct or order an inquest into the manner or cause of death. The official may also investigate or confirm the identity of an unknown person who has been found dead within th ...

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

Maria Bitner-Glindzicz lived in London. She was married to professor of

medical oncology Oncology is a branch of medicine that deals with the study, treatment, diagnosis, and prevention of cancer. A medical professional who practices oncology is an ''oncologist''. The name's etymological origin is the Greek word ὄγκος (''� ...

David Miles, with one daughter and one son.

References

External links

UCL IRIS profile
{{DEFAULTSORT:Bitner-Glindzicz, Maria 1963 births 2018 deaths People from Fleetwood British geneticists Academics of University College London Cycling road incident deaths Road incident deaths in London 20th-century British medical doctors 20th-century British women medical doctors 21st-century British medical doctors 21st-century British women medical doctors Physicians of Great Ormond Street Hospital