Devastating disease which changes brain size discovered
A new genetic disease that affects the size of our brains and causes severe developmental problems has been identified by an international collaboration led by scientists and doctors from the UK, Netherlands and the USA.
Whilst working on another project, Dr Siddharth Banka noticed that three children with large or small brains and delayed development each had mutations in the RAC1 gene. The gene had never previously been linked to human disease, and mutations in no other single gene have previously shown this extent of variability in brain size. Four more children were found in the Netherlands with mutations in the same gene and altered brain-sizes. Some of the affected children were also found to have epilepsy and heart defects. It it thought that the discovery will lead to the identification of further undiagnosed patients.
Dr Banka said:
Evolution has tinkered with thousands of genes over millions of years, to shape the human brain, an organ that is remarkably consistent in its appearance and size across billions of people. However, occasionally a tiny little alteration in just one of these thousands of genes can have devastating effects, reflecting the fine balance of this complex genetic orchestra
Read more on the University of Manchester website.
Manchester Royal Eye Hospital administers its first gene therapy treatment
Manchester Royal Eye Hospital (MREH) achieves a historical milestone, as it delivers gene therapy at this hospital for the first time. The hospital is trialling gene therapy, in collaboration with Saint Mary’s and the NIHR Manchester Clinical Research Facility, for patients with a rare genetic eye condition, x-linked retinitis pigmentosa (XLRP).
XLRP, for which there is currently no effective treatment, is one of the most common causes of blindness in young people.
The surgeon leading the trial in Manchester is Professor Paulo Stanga at MREH, University of Manchester and Manchester Vision Regeneration (MVR) Lab at NIHR Manchester Clinical Research Facility. Professor Stanga said:
Gene therapy is an exciting and new area that could potentially offer a cure across a number of disease areas. We’re delighted to be able to offer our patients the opportunity to participate in this trial for this new treatment for X-linked retinitis pigmentosa. This is a devastating condition for which there’s currently no effective treatment.
Professor Graeme Black, Consultant in Genetics and Ophthalmology, University of Manchester/Central Manchester University Hospitals NHS Foundation Trust adds:
Manchester is a leading centre for the diagnosis and treatment of inherited genetic eye diseases. The co-location of Manchester Royal Eye Hospital and Saint Mary’s Hospital, which is home to the Manchester Centre for Genomic Medicine means we have a cohort of patients who could potentially benefit from this new treatment.
Read the full news article on the CMFT Research & Innovation website.
Professor Dian Donnai receives American Society of Human Genetics Award
The American Society of Human Genetics (ASHG) has named clinical geneticist Dian Donnai, Clinical Head of Division at Saint Mary’s Hospital, as the 2017 recipient of the annual Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education.
The ASHG award recognizes an individual for contributions of exceptional quality and importance to human genetics education internationally. Awardees have had long-standing involvement in genetics education, producing diverse contributions of substantive influence on individuals and/or organizations.
Dr. Donnai’s efforts in human genetics education have reached large and diverse audiences, including clinical geneticists, genetic counselors, students, and the public. Her research at the Manchester Centre for Genomic Medicine has focused on understanding the underlying causes of developmental disorders in children.
Dr. Donnai will receive her award on Wednesday 18th October during ASHG’s 67th Annual Meeting in Orlando, Florida.
Find out more about the award on the AHSG website.
Professor Graeme Black awarded OBE
The Manchester Centre for Genomic Medicine’s Strategic Director, Professor Graeme Black, was awarded the Order of the British Empire (OBE) in the 2017 Queen’s Birthday Honours List. Also a Professor in Genetics and Ophthalmology at The University of Manchester, he has played an integral role in developing Manchester’s position as a leader in the field of inherited ophthalmic disease since joining in 1995.
Read a more about Professor Graeme Black’s OBE on the Royal College of Ophthalmologists website