Rare disease

Document

BPSU Rare disease tea party - reports from past events

Since 2014, we've invited stakeholders from across the rare disease community to this informal networking event. Young people speak about their experiences of living with a rare disease, and patient advocates, researchers and health professionals talk about working in the field. Read on for highligh...

BPSU

Conditions

Rare disease

Engaging children and young people

Children and young people's voice

Patient experience

Patient involvement

Research

Document

BPSU 'Orange Card' reporting scheme - applying to run a study

The British Paediatric Surveillance Unit (BPSU) welcomes applications from clinicians and researchers who wish to carry out national surveillance on rare childhood diseases.

Tuberous Sclerosis Association - Fellowship Awards [OPEN]

These fellowships are awarded to outstanding scientists with the potential to become leaders in the field of tuberous sclerosis research.

Award programme/theme

Fellowship (award type)

Maximum duration

3 years

Tuberous Sclerosis Association - PhD Studentships [OPEN]

These studentships are intended for postgraduates of high academic calibre. Applicants should be working alongside established academics in the field of tuberous sclerosis.

Award programme/theme

Studentship / PhD support

Maximum duration

3 years

Basic page

BPSU study - Behçet’s syndrome

Surveillance of Behçet’s syndrome in children and young people concluded in May 2017. The study team hope to ascertain the incidence and prevalence of Behçet’s syndrome in children and young people. They also hope to examine the clinical presentation and management of the syndrome. A paper has n...

BPSU

Rare disease

Research

Basic page

BPSU study - Pierre Robin Sequence

Surveillance of Pierre Robin Sequence in the UK and ROI concluded in January 2017. The study team is hoping to identify the birth prevalence of Pierre Robin Sequence, outline its clinical presentation, initial management and 12 month clinical outcomes. The study is being led by Dr Marie Wright, winn...

Basic page

BPSU study - Nutritional rickets

Surveillance of nutritional rickets presenting to secondary care in children and young people concluded in March 2017. The study team hoped to ascertain the incidence of nutritional rickets and presentational features of the condition. The study group has now published its findings in the Archiv...

Basic page

BPSU study - British childhood visual impairment and blindness study

Surveillance of childhood visual impairment and blindness in the UK (excluding Republic of Ireland) ≤18 years of age concluded in October 2016. It is hoped that the findings from this study will inform planning of prevention and treatment strategies and targeting of screening; ‘map’ clinical and pub...

Basic page

BPSU study - Surgical ligation of the patent ductus arteriosus (PDA)

Surveillance of surgical ligation of the patent ductus arteriosus in premature babies concluded its surveillance period in September 2013. The study was led by Dr Lleona Lee, winner of the Sir Peter Tizard Bursary 2008-09. A paper has now been published in BMC Pediatrics. Link to the abstract ca...

BPSU

Rare disease

Research

Basic page

BPSU study - Glutaryl CoADehydrogenase Deficiency (GA1)

Surveillance of glutaric aciduria 1 concluded its surveillance period in July 2012. The study was led by Dr Beth Cheesebrough, winner of the Sir Peter Tizard Bursary 2007-08. The study group are yet to publish their findings.

Inherited metabolic medicine