BPSU - Rare disease in paediatrics conference Programme

BPSU 30 year logo

The conference will explore the theme ‘Rare disease in paediatrics – from birth to transition’. It will centre on the child's journey from diagnosis through transition and end of life care.



Delegate booklet including programme, abstracts and tea party informationcan be downloaded here (PDF, 1.5MB)

Programme can be downloaded here (PDF, 279KB)


Session 1 - Improving and speeding up diagnosis

Session 2 - Research into practice

Session 3 - Adolescence and beyond

Session 1 - Improving and speeding-up diagnosis

Early diagnosis of rare disease can frequently be made prior to delivery giving families the opportunity to make choices and prepare for the delivery of their child. 

Advances in genomics will facilitate this early rare disease diagnosis prenatally, antenatally and soon after birth.

30 years of the BPSU: Past, present and the future

Dr Richard Reading

Dr Richard Reading, Consultant Paediatrician and BPSU Chair, Norfolk and Norwich University Hospitals

The BPSU was set up 30 years ago following a national case control study into possible encephalopathy after pertussis immunisation. The methods, of active surveillance among all UK and Irish paediatricians using a self-return card have changed little in principle over the years. This presentation describes some of the landmark achievements of the BPSU in child public health, clinical practice and service development over these years. It discusses how current developments in IT, research governance and uses of data for research, offer opportunities for improvements and expansion of BPSU methods. Plans for prolonged follow-up, record linkage, electronic data capture in BPSU studies are described, and a vision for the longer term future of the BPSU is revealed.

back to top

100,000 genome project and its potential for rare disease research

Professor Eamonn Sheridan

Professor Eamonn Sheridan, Professor of Clinical Genetics, University of Leeds

The 100,000 genomes project promises an unique opportunity to move the diagnosis of rare diseases into the clinical mainstream. The project will have an effect on three major areas, both of which have the potential to transform the rare diseases landscape in the UK.

Presently children are tested for specific genetic variants based on the preconceptions of the clinician about what the likely causative gene is. This results in a circular argument about what the phenotype associated with a particular set of variants actually is, ie if the clinician thinks a child looks like they have Kabuki syndrome, the Kabuki genes are tested. However we already know that clinicians are not very good at guessing what exactly the diagnosis in rare diseases actually is. The 100,000 genomes project will permit a more promiscuous approach to testing, but will crucially combine this with detailed phenotypic data collection. This is vital as it will permit a much more comprehensive assessment of natural history and disease variability than hitherto. This is vital to providing patients with prognostic information.

Furthermore the identification of novel disease causing variants will allow functional interrogation of well characterised disease genes in a much more comprehensive fashion. This is a golden opportunity for biomedical research, the basic work is done and will allow us to ask questions about pathways and disease mechanisms that were not previously possible. This will inform the development of novel and unexpected therapeutic approaches to patient management. Combined with better natural history information this will allow us to design studies of greater clinical relevance than we have been able to do so far.

Lastly the technical approach to the project will result in a step change in the activity of NHS diagnostic labs. It is already possible to map out how analytical pathways will alter over the next five years, so that in future when a child has a genetic test, it is truly a survey of possible causes of genetic disease in that child.

back to top

Prenatal/antenatal diagnosis of rare diseases

Dr Kelly Cohen

Dr Kelly Cohen, Consultant Obstetrician, Leeds Teaching Hospitals

Approximately 1-2% of all fetuses are affected by a congenital anomaly, and many of these fetuses are diagnosed after birth with rare diseases.  Antenatal ultrasound and biochemical screening programmes identify many fetuses at risk of rare diseases, and allow reproductive choices to be made by parents. Antenatal genomic testing of fetal tissue is well-established, and can provide diagnostic certainty to aid counselling. In many cases however, prenatal genetic testing is normal and predicting fetal outcome can be very difficult.  Prenatal diagnosis is a highly challenging field as the assessment of fetal phenotype is very limited, and false positive and false negative diagnoses can have a huge impact on the outcome of pregnancy. 

Recent developments have been welcomed in the field.  The ability to phenotype fetuses has vastly improved since the development of 3D ultrasound, and fetal MRI is increasingly utilised to add diagnostic yield, especially in cases of fetal brain and central nervous system anomalies. 

The advent of genomic medicine has also had a huge impact on prenatal diagnosis. High resolution whole genome testing has increased the diagnosis of rare fetal diseases, but has also resulted in widespread debate regarding the ethics of diagnostic uncertainty and “toxic information” in the prenatal setting. The ‘genotype-first’ era is more problematic when your patient cannot be easily examined. This debate is ongoing as the pace of developing genetic technology far outstrips the guidance for its implementation. We are very near to widespread cell-free non-invasive fetal screening and diagnosis, and sequencing technology such as exomes and genomes are already being assessed in abnormal fetuses. The huge challenge we have is how to implement the technology without causing increased uncertainty and potential harm. 

back to top

Neonatal screening – progress, controversies and the impact of the BPSU

Dr Rachel KnowlesDr Rachel Knowles, Consultant Public Health Medicine, UCL Institute of Child Health

Neonatal screening aims to identify newborn babies at high risk of a condition, including those affected by rare disorders of pregnancy and childhood, for whom timely detection and effective treatment in early life will improve health outcomes. The National Screening Committee advises the UK health ministers and has defined criteria against which existing or new screening programmes are evaluated before policy recommendations are made; these criteria cover the population health burden of the condition, effectiveness of the screening test, effectiveness of treatment, and broader aspects of the screening programme. 

Many BPSU surveillance studies have informed reviews of newborn screening policy by providing evidence relevant to the UK population on the frequency and severity of rare disorders, determining the natural history and opportunities for early detection within clinical practice, and evaluating the performance of new and existing screening programmes. Evidence appraisal includes considering the benefits of early detection for affected babies alongside the potential harms of unnecessary invasive investigations for unaffected babies and their parents.

BPSU studies have been carried out for many rare disorders and infections to answer questions that are relevant to UK newborn screening programmes, including congenital anomalies (congenital adrenal hyperplasia, congenital hypothyroidism, neonatal hip instability, congenital cataract, biliary atresia); inborn errors of metabolism (galactosaemia, medium chain acyl CoA dehydrogenase deficiency); infections (neonatal herpes, HIV infection, group B streptococcal disease).

The presentation will use examples of BPSU surveillance studies of specific conditions to show how these have provided evidence to support the development of newborn screening policies in the UK and contribute to improving outcomes for newborns affected by rare disorders.

back to top

Session 2 - Research into practice

The findings of clinical research must be translated into real practice in order to benefit the lives of children and families living with rare disease.

Rare disease registries – supporting treatment development

Dr Martin Ward PlattDr Martin Ward Platt, Consultant Paediatrician, Newcastle upon Tyne Hospitals

Registries of rare diseases are fragmented: they are mostly maintained by charities and specialist societies, seldom with reliable funding.  They are generally unable to give population based estimates of disease prevalence, and have biases in relation to ascertainment.  In a new initiative, Public Health England is setting up the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) which will provide a register of rare diseases covering the whole of England.  Conditions are eligible for inclusion if they are listed on Orphanet, or in general if they have a prevalence no greater than 1 in 2000.  Methods of ascertainment will vary according to disease and where possible use electronic feeds, for example from screening laboratories.  Public engagement is central, with a planned facility for self-reporting as well as allowing subjects to check the accuracy of their data.  Relationships with organisations such as BPSU, which give highly accurate but time limited ascertainments of certain rare conditions, remain to be worked out.  As the system is being scoped and developed right now, we welcome suggestions for how the system might be queried and data used. 

back to top

Sudden and Unexpected Postnatal Collapse

JCB-Web.jpgDr Julie-Clare Becher, Consultant Neonatologist, Royal Infirmary of Edinburgh

Background: Sudden and unexpected postnatal collapse (SUPC) of a healthy newborn infant is a rare event which carries a high risk of mortality and significant neurodisability in survivors. These infants are unrecognised in national statistics. In 2008, the British Paediatric Surveillance Unit (BPSU) supported a prospective study to ascertain the population incidence of SUPC in the United Kingdom.

Methods: Cases were referred through the BPSU reporting scheme over a 13 month period. Infants were ³ 37 weeks gestation, had an Apgar score ³ 8 at 5 minutes, collapsed within 12 hrs in hospital requiring positive pressure ventilation and either died or received ongoing intensive care. Data were collected on maternal and infant characteristics, clinical investigations and one year outcome.

Findings: There were 45 cases reported, an incidence of 0.05/1000 live births of whom 12 infants died. In 15/45 infants an underlying disease/abnormality was determined. In 30/45 cases (0.035/1000 live births) no such cause was found, but in 24 the clinical/pathological diagnosis was airway obstruction during breast-feeding or in prone position. Mothers were commonly primiparous and unattended by clinical staff before collapse was recognised. Approach to investigation was highly disparate and frequently very limited. Of the 30 infants with no underlying disease/abnormality, 22 (73%) developed a post-asphyxial encephalopathy and ten had a poor outcome (33%) - 5 died and 5 had neurological sequelae at one year. 

Interpretation: SUPC is rare in any one centre and there is no standard approach to investigation. In those cases where collapse is not due to an underlying abnormality, breast-feeding and prone position are important associations. Guidelines for safe postnatal care of infants should include appropriate vigilance of infants particularly where mothers are primiparous or where ability to assess the baby may be impaired.

Funding: WellChild

back to top

Severe Combined Immunodeficiency: from 100% mortality to 100% survival in 50 years?

Professor Bobby GasparProfessor Bobby Gaspar, Professor of Paediatrics and Immunology, Great Ormond Street Hospital

Severe Combined Immunodeficiency (SCID) is a devastating condition characterised by the complete lack of adaptive immunity. Affected children are susceptible to recurrent severe infections and without intervention the outcome is uniformly fatal.

Prior to 1968, the condition had a 100% mortality. The advent of bone marrow transplantation transformed the outcome for these children and over the decades the survival rates have improved progressively with greater than 90% survival in some SCID forms if a matched sibling donor is used. The increasing understanding of the genetic basis of the SCID type has also allowed the development of novel gene therapies, whereby vector mediated genetic correction of autologous bone marrow progenitors can allow recovery of lymphoid development. In some forms of SCID, gene therapy has now led to 100% survival with very high rates of efficacy. Another major development has been the introduction of newborn screening, which means that babies are now identified at birth and protected and can then undergo an early transplant or gene therapy. 

Together these developments have the potential to transform a previously uniformly fatal condition into one where all children have a very high chance of a life-long cure.

back to top

Infectious disease monitoring: predicting what the future holds and it’s impact on clinical practice

Dr Richard PebodyProfessor Richard Pebody, Consultant in Infectious Disease, Public Health England

Infectious disease surveillance is at the cornerstone of the public health management of infection. Indeed, infections have remained a central part of the BPSU reporting system over the three decades of its existence. This presentation will examine some of the challenges the future might hold particularly in relation to emerging infections; new interventions; surveillance innovations and data governance and research.

back to top

Session 3 - Adolescence and beyond

With changes in the profile of many rare diseases the importance of supporting older children and adolescents through their transition into adult care has become a real challenge.

Transition: how can paediatricians make it work?

LK-Web.jpgDr Larissa Kerecuk, Consultant Nephrologist, Rare Diseases Lead, Birmingham Children’s Hospital & Dr Graham Lipkin, Consultant Nephrologist, Rare Diseases Centre at the Queen Elizabeth Hospital Birmingham

Transition of paediatric renal transplant recipients to adult care is a critical period associated with high rates of graft loss.  Our regional transition service between multidisciplinary Paediatric Renal Centre and the Adult Nephrology Hospital started in 2006, including investment in joint clinics, transition tours, workshops and social events. Here we present the evolution of our transition service and the beneficial effect it has had on renal survival. We specifically show changes in eGFR and graft loss before and after introduction of service as well as factors which influence graft function during transition. We are now using the renal model of transition for other rare diseases as we develop our rare disease centres at University Hospital Birmingham and Birmingham Children’s Hospital with the aim of providing seamless multidisciplinary care during transition.

back to top

Life limiting care – the effect of changing disease profiles

Dr Heather McCluggageDr Heather McCluggage, Associate Specialist, Paediatric Palliative Care, Western Health and Social Care Trust, Northern Ireland

In 1997 the Association for children with terminal and life limiting conditions defined children and young people’s palliative care as:

“an active and total approach to care, embracing physical, emotional, social and spiritual elements."

This presentation demonstrates how rare diseases and their treatments are changing so that, like the children who have them, they cannot easily be categorised into one box or another. However the palliative care principals can be used at all stages of the disease process. It is now possible for a child who would previously have been thought to be exclusively palliative to recover and leave the palliative case load.

For those who are life limited and will require palliative and then end of life care the core principals of palliative care apply whatever their condition, even if they do not have a diagnosis.

back to top

Real lives: growing up with rare disease, the impact on the child and family

Dan LewiDan Lewi, Charity Director, The CATS Foundation

When your child is diagnosed with a rare and terminal disease it has a dramatic affect on an entire family. You are all forced to confront many challenging situations and make difficult decisions which can have an impact on everyone. Patient groups are the first point of call for many families in this situation as they are able to give advice and practical support. It has started to become more common for these groups to be actively involved in the development of clinical trials and treatments through their expertise in the diseases and the networks they have created.

At the Cure & Action for Tay-Sachs (CATS) Foundation we were established to provide support to families to help them cope with a diagnosis of Tay-Sachs or Sandhoff to a member of their family. Over time we have developed our links to the clinical research team investigating a potential treatment for the diseases and are now the nominated patient organisation providing support to a clinical trial into GM2 Gangliosidoses (the group name of the diseases).

back to top

Gold sponsor:




Silver sponsors:

Biomarin - Silver.png SOBI Logo with Tagline - Silver.jpg pfizer_rgb_pos.jpg