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The University of Southampton

Dr Andrew Douglas BSc (MedSci), MBChB, DPhil, MRCPE

Clinical Lecturer in Genetic Medicine

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Andrew Douglas is Clinical Lecturer in Genetic Medicine at the University of Southampton and an Honorary Specialty Registrar at the Wessex Clinical Genetics Service.


Dr Douglas studied medicine at the University of Edinburgh, undertaking an intercalated BSc in molecular biology. He is a member of the Royal College of Physicians of Edinburgh. Since 2009 he has been a specialty registrar in clinical genetics at the Wessex Clinical Genetics Service based in Southampton, initially as an Academic Clinical Fellow and latterly as an Academic Clinical Lecturer. During this time he also undertook a Wellcome Trust funded DPhil at the University of Oxford investigating oligonucleotide-based therapies for neuromuscular disease.

Dr Douglas has current research projects involving C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia, oligonucleotide therapies and Duchenne muscular dystrophy. Other research interests include RNA splicing and the blood-brain barrier.


BSc (MedSci), Molecular Biology Honours, University of Edinburgh 2002
MB ChB, Medicine and Surgery, University of Edinburgh 2005
MRCP(UK), Royal College of Physicians of Edinburgh 2008
DPhil, Biomedical and Clinical Sciences, University of Oxford 2015

Appointments held

Clinical Lecturer in Genetic Medicine, University of Southampton, 2015-present

Specialty Registrar in Clinical Genetics, University Hospital Southampton NHS Foundation Trust, 2009-present

Wellcome Trust Clinical Fellow, University of Oxford, 2011-2014

Academic Clinical Fellow in Clinical Genetics, University of Southampton, 2009-2011




Research interests


Dr Douglas’ principal research interest is the development of oligonucleotide therapeutics for genetic disorders. Oligonucleotides are short nucleic acid-like molecules that generally act by binding to specific RNA transcripts and either knocking them down or otherwise altering their function. An increasing number of previously untreatable genetic conditions are becoming viable targets for his kind of therapeutic approach. The hope is that eventually the majority of genetic conditions will prove amenable to some form of interventional genetic therapy.

Dr Douglas has a particular interest in the molecular genetics of neuromuscular disease. In this regard, he is currently working on the C9orf72 gene, in which a hexanucleotide expansion can cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Additional research interests include the therapeutic manipulation of RNA splicing in disease, particularly exon skipping in Duchenne muscular dystrophy (DMD), the function of dystrophin protein in the brain, the delivery of oligonucleotide therapies across the blood-brain barrier (BBB) or blood-cerebrospinal fluid barrier (BCSFB) and the molecular genetics of neuromuscular disease.

As an academic trainee in clinical genetics, Dr Douglas also maintains an interest in all aspects of this specialty, particularly the application of novel genomic technologies in the diagnosis, assessment and ultimately also the therapy of genetic disorders.




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BM4/BM5 – Lecturer/Tutor as required

Clinical Genetics SSU – Coordinator

LifeLab – Meet the Scientist participant

Treatment of Genetic Disorders (TGD) symposium – Organiser




Therapeutic epigenetic manipulation of C9orf72 for amyotrophic lateral sclerosis and frontotemporal dementia

This project, funded by the Academy of Medical Sciences, aims to understand and therapeutically influence the molecular genetic regulation of the C9orf72 gene, which is involved in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

ALS (also known as motor neurone disease) is a devastating neurodegenerative illness associated with progressive degeneration of both upper and lower motor neurones. It affects around 1 in 400 people during their lifetime and leads to rapidly deteriorating muscle weakness and paralysis. Death usually occurs within 3-5 years of diagnosis, most often from respiratory failure.

A hexanucleotide repeat (GGGGCC)n expansion in a non-coding 5’ region of the C9orf72 gene has been found to cause up to 40% of familial ALS and up to 25% of familial FTD cases. The exact pathogenesis remains uncertain, although both gain-of-function and loss-of-function mechanisms have been suggested.

This project aims to better understand the epigenetic regulation of C9orf72 and to use oligonucleotide technology to bring about lasting epigenetic changes in the gene’s expression, which may prove therapeutically useful.

The phenotypic spectrum of DMD mutations (Deciphering Developmental Disorders Complementary Analysis Project #111)

DMD is an X-linked condition of progressive muscle wasting caused by mutations in the DMD gene that affects some 1 in 5000 live male births. Apart from effects on skeletal and cardiac muscle, around a third of boys affected by DMD also have a variable degree of cognitive impairment. The reason for this is not yet clear. The protein product of the DMD gene, dystrophin, is known to play a structural role in muscle but its role within the brain is not well understood. Furthermore, the degree of cognitive impairment is not directly related to the severity of muscle disease.

This project aims to use data from the whole-exome DDD project as well as genotype-phenotype data from other sources to better characterise the link between DMD mutations, cognitive impairment and dystrophin’s function in the brain.



On 25th February 2016 the first Treatment of Genetic Disorders Symposium was held at the Institute of Developmental Sciences Building at the University of Southampton.

The TGD symposium brought together expert speakers from across the country to present some of their cutting-edge work on the development of therapies for genetic conditions. 

Topics included:

Retinal disease
Lysosomal storage disorders
Mitochondrial disease
Ribosomal read-through
Neuromuscular disease
Overgrowth disorders
Tuberous sclerosis
Drug discovery

Based on the great success of this event, we are keen to organise a second TGD symposium for 2017. If you would like to be involved or if you know someone who may like to give a talk, please contact Andrew Douglas: 

Dr Andrew Douglas
Faculty of Medicine, University of Southampton, Building 85, Life Sciences Building, Highfield Campus, Southampton, SO171BJ
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