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Overview

In collaboration with the Laboratory of Molecular Medicine (part of Partners Healthcare) we have developed a genetic testing platform that uses a single test to screen for any inherited kidney disease. This test can detect known genetic changes that lead to kidney disease as well as detect novel variation in new genes. The test is ideal for patients in which there are multiple family members affected. We hope to use information from genetic sequencing to guide treatment and to provide new pathways for further research.

Our group also has an interest in Fabry disease. Currently we are looking for novel urine biomarkers that can suggest involvement of the kidney in Fabry disease. Such biomarkers may help to determine when to initiate therapy in individuals with Fabry.  

References

  1. Isakova T, Xie H, Barchi-Chung A, Vargas G, Sowden N, Houston J, Wahl P, Lundquist A, Epstein M, Smith K, Contreras G, Ortega L, Lenz O, Briones P, Egbert P, Ikizler TA, Jueppner H, Wolf M. Fibroblast growth factor 23 in patients undergoing peritoneal dialysis. Clin J Am Soc Nephrol. 2011; 6(11):2688-95.
  2. Olsson M, Tintle L, Kierczak M, Perloski M, Tonomura N, Lundquist A, Murén E, Fels M, Tengvall K, Pielberg G, Dufaure de Citres C, Dorso L, Abadie J, Hanson J, Thomas A, Leegwater P, Hedhammar A, Lindblad-Toh K, Meadows JR. Thorough Investigation of a Canine Auto-inflammatory Disease (AID) Confirms One Main Risk Locus and Suggests a Modifier Locus for Amyloidosis. PLoS One 2013; 8(10):e75242.
  3. Hoeppner MP, Lundquist A, Pirun M, Meadows JR, Zamani N, Johnson J, Sundström G, Cook A, FitzGerald MG, Swofford R, Mauceli E, Moghadam BT, Greka A, Alföldi J, Abouelleil A, Aftuck L, Bessette D, Berlin A, Brown A, Gearin G, Lui A, Macdonald JP, Priest M, Shea T, Turner-Maier J, Zimmer A, Lander ES, di Palma F, Lindblad-Toh K, Grabherr MG. An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts. PLoS One. 2014; 9(3):e91172.
  4. Mendu ML, Lundquist A, Aizer AA, Leaf DE, Robinson E, Steele D, Waikar SS, The Utility of Diagnostic Testing Employed in the Initial Evaluation of Chronic Kidney Disease.  JAMA Intern Med. 2015; 175(5):853-6.
  5. Sise ME, Bloom AK, Wisoky J, Lin MV, Gustafson JL, Lundquist AL, Steele D, Thiim M, Williams WW, Hashemi N, Kin AY, Thadhani R, Chung RT. Treatment of Hepatitis C Virus-Associated Mixed Cryoglobulinemia with Sofosbuvir-Based Direct-Acting Antiviral Agents. Hepatology. 2016; 63 (2): 408-17.
  6. Mendu ML, Lundquist A, Alzer AA, Leaf DE, Robinson E, Steele DJ, Waikar SS. Clinical Predictors of Diagnostic Testing Utility in the Initial Evaluation of Chronic Kidney Disease. Nephrology. 2015 Nov 26 [epub ahead of print].
  7. Lundquist AL, Nigwekar SU. Optimal management of bone mineral disorders in chronic kidney disease and end stage renal disease.Curr Opin Nephrol Hypertens. 2016 Jan 16. [epub ahead of print]