Ïã¸ÛÁùºÏ²Ê

XClose

Ïã¸ÛÁùºÏ²Ê Great Ormond Street Institute of Child Health

Home

Great Ormond Street Institute of Child Health

Menu

Genetics and Genomic Medicine

The Genetics and Genomic Medicine Research & Teaching Department is a multi-disciplinary group of researchers with an international reputation for research into rare genetic disorders. Our aims are to deliver better diagnostics through identification of novel disease causing genes and accurate disease biomarkers for targeting of therapies. In order to support our powerful genomics and mass spectrometry technology platforms we create and integrate multi-omics data and its healthcare applications. We develop and run trials of novel therapies in rare disease patient cohorts.

Sections

News and events

±·±ð·É²õ:ÌýÌý


Thursday, 27 June 2024:ÌýÏã¸ÛÁùºÏ²Ê Senior Promotions 2023-24 in GGM

Dr Haiyan Zhou (Molecular Basis of Rare Diseases) to Professor of Genetic Medicine

Dr Naresh Hanchate (Molecular Basis of Rare Diseases) toÌýPrincipal Research Fellow


Tuesday, 18 June 2024:ÌýÌýBlood test could predict Parkinson’s seven years before symptoms

A team of researchers, led by scientists at Ïã¸ÛÁùºÏ²Ê including senior authorÌýProfessor Kevin Mills, co-authorÌýDr Jenny Hällqvist and GGM colleagues,Ìýand University Medical Center Goettingen, Germany, have developed a simple blood test that uses artificial intelligence (AI) to predict Parkinson’s up to seven years before the onset of symptoms.


Monday, 10 June 2024:ÌýÌýNew blood test could prevent sudden child deaths caused by heart condition

A new blood test that could identify children with a potentially fatal heart condition has been developed by researchers at Ïã¸ÛÁùºÏ²Ê and Great Ormond Street Hospital (GOSH), including co-author Professor Kevin Mills (GGM).


Monday, 20 MayÌý2024:ÌýMaria Bitner-Glindzicz Travel and Conference Fund is now openÌýfor applications.

Deadline is 5pm Wednesday 18 SeptemberÌý2024.Ìý


Wednesday, 24 April 2024:ÌýNew national research centres to unlock tests and treatments for rare diseases

Ïã¸ÛÁùºÏ²Ê scientists will work to help thousands of people living with rare diseases get access to improved diagnostics, treatments and potentially cures, thanks to funding for four new research centres. A new £9.4million LifeArc Centre for Rare Respiratory Diseases will be co-led by Professor Hannah Mitchison (Ïã¸ÛÁùºÏ²Ê Great Ormond Street Institute of Child Health) alongside academic partners in Edinburgh, Nottingham, Dundee, Cambridge, Southampton and the UKRI Nucleic Acid Therapy Accelerator (NATA) – with the aim ofÌýuniting children, adults and families with clinical experts, researchers, investors and industry leaders.


Events:Ìý


Thursday, 27 June 2024:ÌýEstablishing a UK Platform of Nucleic AcidÌýTherapy for Rare DiseaseÌý(UPNAT) Node Inaugural SymposiumÌý

Time: 10am-5pm

Location: Ïã¸ÛÁùºÏ²Ê GOS Institute of Child Health (Kennedy Lecture Theatre), 30 Guilford Street, London, WC1N 1EH

Registration:


Details of past news and events

Department job opportunitiesÌý Ìý


ÌýExperimental Officer (Spatial Genomics) - closing date 22/07/2024

Applicants are invited for an Applications Specialist position to work in spatial genomics at Ïã¸ÛÁùºÏ²Ê Genomics, the main genomics facility at Ïã¸ÛÁùºÏ²Ê which is based in the Zayed Centre for Research into Rare Disease in Children. We are seeking a highly motivated individual with experience or interest in single cell genomics, spatial genomics and, more generally, next generation sequencing to join our collaborative genomics facility. This is a varied, lab-based role and the successful applicant will join a very busy facility working closely with our single cell specialist and other members of the sequencing stream and the facility to provide genomics services to both internal and external users such as scientists, clinicians and industry professionals. The post is funded for 3 years with the possibility of extension. This position is grade 6 or 7, please see job description/Person specification for detailed information.


Research Fellow - closing date 30/07/2024

We are seeking to appoint a highly enthusiastic postdoctoral research fellow to join a large national programme on establishing a UK platform for Nucleic Acid Therapeutics for rare disease (UPNAT Node), supported by the UKRI MRC and NIHR. The role offers the appointed individual a unique opportunity to develop a strategic framework to identify rare disease-associated variants amendable to NATs. The research fellow will be mentored by a diverse range of expert researchers, clinician scientists and bioinformaticians, alongside benefiting part of a rich collaborative network. The research fellow will also get the opportunity to develop pre-clinical NAT targets using a broad range of molecular and cell biology-based approaches. The postdoctoral research fellow will be responsible for conducting experiments on executing genetic data analysis with investigators and databases associated with UPNAT, and testing NATs designed for the targets selected by the Target Selection Working Group in the Node. The post will be allocated in the Zhou lab at the Great Ormond Street Institute of Child Health (GOSICH), full time for 2 years with possibility of extension.


Platform Technologies

Ïã¸ÛÁùºÏ²Ê Genomics logoBiological Mass Spectrometry Centre