BPSU - Rare Disease Conference 2016

Rare disease conference

On 23 February 2016 the British Paediatric Surveillance Unit (BPSU) held its 30th anniversary rare disease in paediatrics conference and Rare Disease Day tea party. The event was held at the University of Birmingham and around 150 delegates attended the meeting.

About the conference and tea party

The conference explored the theme of ‘rare diseases in paediatrics – from birth to transition’ and centred on the child's journey from diagnosis through transition and end of life care.

Around 150 delegates attended the event including patients and carers, healthcare professionals, researchers, industry and policy-makers.


The conference was divided into three sessions. Session 1 considered improving and speeding-up diagnosis of rare diseases. Session 2 considered how the findings of clinical research might be translated into practice to benefit the children and families living with a rare disease. Session 3 then considered the changes in the profile of many rare diseases and the importance of supporting older children and adolescents through their transition into adult care.

Programme and abstracts

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.

Prof j Newton, PHE introducing the conferencePresentations were received from Professor Eamonn Sheridan on the 100,000 genome and its potential for research and the diagnosis of rare diseases. Dr Kelly Cohen discussed the prenatal/antenatal diagnosis and recent developments in the field with the ability to phenotype fetuses and the advent of genomic medicine. Dr Rachel Knowles considered the impact of the BPSU and its role in providing an evidence base to support the development of newborn screening policies. 

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 conference questionPresentations were received from Dr Martin Ward Platt who discussed rare disease registries and the establishment of Public Health England's National Congenital Anomaly and Rare Disease Registration Service (NCARDRS). Dr Julie-Clare Becher presented her Sudden and Unexpected Postnatal Collapse (SUPC) study. Professor Bobby Gaspar considered Severe Combined Immunodeficiency (SCID) and how, with the introduction of bone marrow transplantation, the disease went from a 100% mortality rate to a 100% survival rate in 50 years.

Professor Richard Pebody then considered infectious disease surveillance and its role in the public health management of infection - the challenges, particularly in light of emerging infections, new interventions, surveillance innovations and data governance and research.

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.

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Presentations were received from Dr Larissa Kerecuk, the rare diseases lead at Birmingham Children's Hospital and Dr Graham Lipkin who considered the transition of paediatric renal transplant recipients to adult care and the challenges this presents. Dr Heather McCluggage then considered life-limiting care and the effect of changing disease profiles. Dan Lewi of The CATS Foundation then discussed the impact on a child and their family of living with a rare disease and the role patient groups play in supporting individuals and families.

Young people of Alstrom Syndrome UK

Rare Disease Day tea party

The conference was rounded off by our annual Rare Disease Day tea party, which has established itself on the calendar as one of the main events for UK rare disease activities. This year, the young people of Alstrom Syndrome UK, Hear My Voice Youth Forum (HMV) presented their newly designed, transition resources. The resources known as T-KASH (Transition-Knowledge And Skills in Health) are aimed at young people/families and professionals.

More about this year's rare disease tea party

Pictures/tweets from the event

View pictures from the event

View selected tweets from the event

Contact for further information

If you would like to know more about this event, please contact a member of the BPSU team - bpsu@rcpch.ac.uk.


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Silver sponsors:

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