The research activities of our team focus on improving the diagnosis, management, treatment and understanding of developmental disorders that affect the brain and body structures. The team is mainly involved with patients with rare diseases; further information about the team and their activities is available on the Rare Disease pages of this website .
We have a long history of identifying the underlying genetic cause of distinct genetic syndromes such as Cohen Syndrome, Say-Barber-Biesecker syndrome, Ochoa syndrome, Burn-McKeown syndrome, POU3F2 deletion syndrome and Fillipi syndrome. We also work collaboratively with other centres;for example, team members have enrolled over 900 patients into the UK Deciphering Developmental Disorders (DDD) Study which has led to the recognition and further delineation of new syndromes such as PURA syndrome and DYRK1A syndrome. We have also recruited over a 1000 developmental disorder patients so far into the UK 100,000 Genomes England Study.
We have undertaken studies to understand the role of genes discovered in both health and disease through research at The University of Manchester and in collaboration with world-wide colleagues. Examples include work on MEK/ERK pathway defects in Kabuki syndrome and effects of heparanase 2 on neural development on Ochoa syndrome. We have also been involved in a large body of work delineating the effects of in utero antiepileptic drug exposure on physical and neurodevelopment, particularly concerning the Fetal Valproate Syndrome.
Several team members have developed expertise in diagnosing and managing specific disorders and through their clinical research have assembled large clinical cohorts for study. These disorders include type I interferonopathies, Williams syndrome, Cohen syndrome, Neurofibromatosis type 1, Fetal Valproate syndrome, Kabuki syndrome, Coffin-Siris syndrome, CHARGE syndrome, Angelman syndrome, and the conditions called “Rasopathies” ie Noonan syndrome and its variants, Costello syndrome and Cardio-facio-cutaneous syndrome. This expertise has enabled us to contribute high quality clinical information to many papers describing the natural history of these rare disorders and to provide appropriate information for patients and families.
We have the longstanding aim of improving healthcare for patients with rare diseases. To this end, we have produced care pathways and guidelines for a number of rare conditions by consultation with other experts and affected patients and their families. The laboratory scientists in the team have introduced new and innovative testing for more rapid and effective diagnosis of rare diseases. We regularly recruit patients with rare disease into clinical trials, with team members acting as Principal Investigators on observational and interventional clinical studies.
We host a large number of undergraduate and post-graduate students within our team as they undertake research studies on Developmental Disorders leading to degree qualifications. In addition, we accept visiting researchers for shorter research attachments. We provide significant input to the undergraduate programme by supervising student research projects (APEPS) and introduce school age students to research through a number of initiatives. Through ERN-ITHACA, the newly established European Reference Network on congenital malformations and intellectual disability, we plan to offer short research attachments to our colleagues throughout Europe. Members of our team sit on grant awarding bodies and regularly review medical literature.
We host a two-yearly Manchester International Dysmorphology Meeting, renowned for it’s high quality, where research findings in the field are shared. We participate in a number of patient support group meetings, giving presentations to update lay groups on research findings. We are major contributors of articles to peer-reviewed journals in the field of developmental disorders with in excess of 75 articles each year from members of our team. The Clinical Dysmorphology journal is edited by our departmental team and provides a platform for trainees in particular to begin to contribute to medical literature.
MCGM Clinical & Research
|Dr Siddharth Banka||Consultant Clinical Geneticist|
|Dr Catherine Breen||Consultant Clinical Geneticist|
|Dr Tracy Briggs||Consultant Clinical Geneticist|
|Dr Emma Burkitt-Wright||Consultant Clinical Geneticist|
|Dr Kate Chandler||Consultant Clinical Geneticist|
|Professor Jill Clayton-Smith||Consultant Clinical Geneticist|
|Professor Dian Donnai||Consultant Clinical Geneticist|
|Dr Sofia Douzgou||Consultant Clinical Geneticist|
|Dr Elizabeth Jones||Consultant Clinical Geneticist|
|Professor Bronwyn Kerr||Consultant Clinical Geneticist,
Honorary clinical Professor of Paediatrics and Medical Genetics, University of Manchester
|Dr Kay Metcalfe||Consultant Clinical Geneticist|
|Dr Audrey Smith||Consultant Clinical Geneticist|
|Ms Michelle Bottomley||Genetic counsellor|
|Ms Elisabeth Alexander||Genetic Counsellor|
|Ms Theresa Roberts||Genetic counsellor|
|Dr Simon Ramsden||Consultant Clinical Scientist|
|Ms Heather Ward||Principal Clinical Scientist|
International Costello syndrome support group (UK)
Costello Syndrome Family Support Network (USA)
Noonan Syndrome Association UK
Williams’ syndrome foundation UK
Rett syndrome association UK
Cohen Syndrome Support Group UK
The Fanconi Hope Charitable Trust
National Collaborative studies;
MCGM led studies;