EuroMedLab 2027

Advancing diagnosis of rare paediatric diseases 

Plenary Topic 

Traditionally focuses on host nation public health initiative. 

UK Generation Study - Genomics England (Dr Ellen Thomas, Chief Medical Officer, Genomics England) 

 Morning Symposium One – Rare Diseases  

1. TOPIC: RNA-seq the next step after WES and WGS  
   Prof Lianna G Kyriakopoulou (Toronto SickKids / Chair of C-ETPLM) 
2. TOPIC: Diagnosis of rare primary immunodeficiencies and the novel therapies 
   Prof Claire Booth (GOSH, London) - to confirm  
3. TOPIC: Advances in diagnosing mitochondrial disease
   Prof Simon Heales (Queen Square/GOSH, London) 
4. TOPIC:  SWAN (Syndrome Without A Name) Clinic – Experience of first UK clinic focused on shortening the diagnostic odyssey
   Prof Graham Shortland (Cardiff) 

Afternoon Symposium Two – Paediatric Biochemistry Focus 

1. TOPIC: Update on standardisation of Bilirubin Assays and the risk to neonatal hyperbilirubinaemia management
   Dr Mercy Thomas (Murdoch Children’s Research Institute, Australia / IFCC Co-Chair of the Working Group on Neonatal Bilirubin) 

2. TOPIC: Using Troponin in paediatrics
   Dr Cate Osomule (Washington University USA, C-ETPLM committee member) 

3. TOPIC: Improving identification of neonatal and paediatric AKI 
   Dr Tim Lang (Newcastle, C-ETPLM consultant) 

4. TOPIC:   What’s new in mass spectrometry in a paediatric metabolic lab (analytical)
   ?Dr Rachel Carling (Evelina Hospital, London)​​