Sally Feather Raine Award winner 2002

1. Title and name of place of work and what I do now

I was appointed as consultant paediatric nephrologist at Leeds Teaching Hospitals in 2003. Our busy paediatric department provides a comprehensive renal service for the children in the Yorkshire region. Although I am in a fulltime NHS funded clinical. post I still consider research an important part of my work and remain actively involved in research as a clinical collaborator

2 What work led up to the Raine award.

I was given the Raine award in 2002 for work on the molecular genetics of renal tract malformations. At the time I was working in Professor Sue Malcolm’s lab at the Institute of Child Health in London and the work was co-supervised by Professor Adrian Woolf. I was funded by Action Medical Research for a 3 year research training fellowship which led to a PhD. Subsequently I continued with my work whilst a lecturer at the Institute of Child Health.

I worked on two distinct areas of renal tract malformations:

  • The complex genetics of vesicoureteric reflux (VUR); performing a genome wide linkage study in dominant families with VUR in collaboration with Professors Tim and Judith Goodship in Newcastle leading to identification of a locus in dominant VUR.
  • The genetics of oral-facial digital syndrome type 1 (OFD1): a dominant X-linked disorder in which the phenotype includes polycystic kidney disease. I mapped the locus for this disorder and, in collaboration with Brunella Franco, TIGEM, Italy, identified the gene responsible(OFD1)which has subsequently led to further insights into the mechanisms responsible for polycystic kidney disease. In addition, clinically this discovery has led to the possibility of genetic testing in families with OFD1.

3. Who what inspired the work.?

The Institute of Child Health was a very inspiring place to work as research fellow because of the  close collaboration between clinical and basic scientific research.

4. What the award meant ?

I felt the award was a great honour for me personally that has encouraged me to continue pursuing research as a clinical collaborator. It was also an honour for paediatrics; I was the first paediatrician, and I think to date still the only paediatrician, to have received this prestigious award. Many renal diseases are genetically determined or originate in childhood and I believe it is really important that adult and paediatric nephrologists work closely together. The recent strengthening of the relationship between adult nephrology and paediatric nephrology through the British Association of Paediatric Nephrology becoming a division of the Renal Association I believe will strengthen that relationship and will hopefully support much more collaborative research.

5. How my career has progressed.

As a result of the research leading to the Raine award, I have developed within my department a regional multidisciplinary VUR clinic together with Mr R Subramanian, consultant paediatric urologist and we collaborate closely with Professor Jenny Southgate in the department of Urothelial Biology in York; we are actively researching the biology of recurrent urinary infections. Additionally, I closely collaborate with the genetics department at the Leeds Institute of Molecular Medicine where a number of autozygous mapping projects are underway in consanguineous families with unusual renal phenotypes. Unusual recessive phenotypes are prevalent in the highly consanguineous population of West Yorkshire.  In 2009, together with Robert Kleta and Detelf Bockenhauer, UCL we identified KCNJ10, a potassium channel, as responsible for EAST syndrome, a new syndrome including a Gitlemans like tubulopathy. I will be presenting this research in May 2010 at the Renal Association meeting.

6. Implications for clinical practice

The discovery of genes associated with renal tract disorders offers not only the opportunity for genetic testing in families with a known history of these disorders but can also help in the further understanding of the mechanisms responsible for those diseases.

7. What is my most proud accomplishment?

My PhD and the Raine award!

8. What is the most pressing problem in nephrology?

Having adequate funds for research has always been, and will continue to be, a problem. However in paediatrics there are additional ethical challenges particularly around the issues of consent. This and the fact that renal disease in children is rare, has always made doing clinical research studies more challenging in children, but we need to rise to that challenge.

9. Advice to trainees

I think that doing a period of research even if you aspire to being a full time clinician as I am as you will gain huge benefits from it

10. Plans for the future

I hope to continue to work as an active clinical collaborator and remain active in research particularly in the area of autozygous genetics of renal disorders. I am also very excited that the Medicines for Children Research Network is extending into West Yorkshire this year and look forward to working with their team as I think this will facilitate more paediatric research development in Leeds.