Rare Diseases collectively affect around 3.5 million people in the UK at any given time. These conditions pose unique challenges due to their limited understanding, both in terms of their underlying mechanisms and available treatment options.   

Our vision 

The King’s Health Partners Rare Disease Network seeks to unite our clinical and research communities with the shared vision of delivering better health outcomes and improving the lives of those affected by rare diseases.  

The network will raise awareness of existing research across our institutions - fostering collaboration, scale, and impact of research, and serving as a catalyst to attract future public and private investment in translational rare disease research. 

The collaborations formed through the Rare Disease Network will ultimately lead to faster progress in understanding the disease, development of new treatments, and improved patient outcomes. It will be an accelerator of translation of research into clinical practice. 

The King's Health Partners Rare Disease Network brings together research and clinical groups across the region - facilitating networking opportunities and creating a collaborative environment for cross organisational and transdisciplinary rare disease research​. 

Get involved

Catch up with our Rare Disease Grand Rounds on the Learning Hub

  • May 2025:  From targeted to population: Genomics approaches to rare disease diagnosis in treatable conditions

  • February 2025: Rare disease cohorts and registries

  • November 2024: Rare skin disorders

  • June 2024: Neurometabolic disorders and neurodegeneration

  • February 2024: Inaugural KHP Rare Disease Grand Round to celebrate Rare Disease Day

If you would like to receive the latest updates, important announcements, and opportunities to engage with the KHP Rare Disease Network, please sign up to our mailing list here.  Previous editions can be found below.

We invite you to connect with us and utilise the network for collaboration and support. Our expert steering committee can provide advice and mentorship, and connections with others other potential collaborators across the KHP partner organisations. We can also share grant opportunities and celebrate successes across our networks.  If you have any events, publications, or work relevant to Rare Diseases that you would like to spotlight, please get in touch.  Contact us: KHPRareDiseaseNetwork@kcl.ac.uk.  

The KHP Rare Disease Network Steering Committee provides expertise and input in shaping and overseeing the King’s Health Partners Rare Disease Network and collectively creating a positive impact for translational rare disease research. 

Chair:

  • Dr Cristina Dias, Group Leader and Senior Lecturer, Medical and Molecular Genetics, King’s College London; Consultant in Clinical Genetics and Genomics, Guy’s and St. Thomas’ NHS Foundation Trust

Deputy chair:

  • Dr Ania Koziell, Consultant Nephrologist, Evelina London Children’s Hospital, and HEFC Senior Lecturer, King’s College London

Membership:

  • Dr Charlotte Barker, SpR in Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, and an NIHR Advanced Fellow, UCL GOS Institute of Child Health
  • Dr Rachael Bastiaenen, Consultant Cardiologist, Guy’s and St Thomas’ NHS Foundation Trust, Rare Disease Medical Co-Lead, NHS South East Genomic Laboratory Hub
  • Dr Felix Chua, Consultant Respiratory Physician, Royal Brompton and Harefield NHS Foundation Trust
  • Prof Heinz Jungbluth, Professor of Paediatric Neurology, King’s College London, Consultant in Paediatric Neurology, Guy’s and St Thomas’ NHS Foundation Trust
  • Prof Karen Liu, Professor of Genetics and Development, King’s College London
  • Dr Tony Lockett, Senior Lecturer, King’s College London
  • Dr Anatoliy Markiv, Head of Genetics Teaching Department, King’s College London
  • Dr Nabil Melhem, Paediatric Nephrology Consultant, Guy’s and St Thomas’ NHS Foundation Trust
  • Dr Jemima Mellerio, Consultant Dermatologist, Guy’s and St Thomas’ NHS Foundation Trust
  • Dr Shehla Mohammed, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust, Honorary Senior Lecturer, King's College London
  • Dr Deborah Morris-Rosendahl, Consultant Clinical Scientist, Royal Brompton and Harefield NHS Foundation Trust
  • Dr Subhankar Mukhopadhyay, Senior Lecturer in Innate Immunity, King’s College London
  • Prof Michael Simpson, Professor of Genetics, Head of the Department of Medical and Molecular Genetics, King’s College London
  • Prof John Strouboulis, Chair in Molecular Erythropoiesis, King’s College London
  • Dr Michael Yau, Lead Scientist for Rare Disease Genomics, South East Genomic Laboratory Hub

Upcoming Rare Disease Network Events

No upcoming events found.