Peter Czarnecki

Peter G. Czarnecki, MD studies the function of ciliopathy proteins and the role of pathogenic mutations. He analyzes the assembly of ciliary protein complexes into functional modules using protein biochemistry, cell biology and live cell imaging techniques. Dr. Czarnecki’s interest in ciliary biology and the connections to Polycystic Kidney Disease pathogenesis range back to his time as a student at the University of Freiburg Medical School (Germany). He worked in the laboratory of Gerd Walz (Freiburg), before moving on to his residency training in Internal Medicine at the Mayo Clinic in Rochester, MN. At the Mayo Clinic, he pursued further training in PKD genetics and ciliary biology, working at the Mayo PKD center under the mentorship of Peter C. Harris. Dr. Czarnecki completed his clinical training in Nephrology at the Beth Israel Deaconess Medical Center (BIDMC), and he had a broad exposure to clinical management of PKD, working closely with Ted I. Steinman. Together with Dr. Steinman, Dr. Czarnecki conducted a number of clinical research studies, most importantly the BIDMC branch of the HALT-PKD study, the largest ADPKD-related clinical trial ever performed. Dr. Czarnecki maintained a strong involvement in basic research in ciliary biology throughout his fellowship, and worked in the Laboratory of Quantitative Cell Biology under the supervision of Jagesh V. Shah.

Ciliopathy Signaling

Dr. Czarnecki continues his experimental work on ciliopathy proteins at the Laboratory of Quantitative Cell Biology with Dr. Shah. His special interest is the ciliary Inversin compartment, a protein module at the basal ciliary axoneme that is composed of four known ciliopathy proteins, inversin, NPHP3, NEK8 and ANKS6. Dr. Czarnecki investigates the assembly pathway of this multiprotein complex, the downstream effects of mutations affecting these proteins, and the consequences of ciliary signaling pathways. He discovered a phosphorylation-dependent mechanism involving the NEK8 protein kinase in association with its allosteric activator, ANKS6, that plays a crucial role in early embryonic patterning of kidneys, cardiovascular system and L-/R-asymmetry determination.

BWH PKD clinic

In 2014, Dr. Czarnecki joined the Brigham and Women’s Hospital staff as Associate Physician with the Division of Renal Medicine and Instructor of Medicine at Harvard Medical School. He started a supspecialty clinic specifically devoted to Polycystic Kidney Disease, as well as related genetic and cystic kidney disorders. Dr. Czarnecki offers primary evaluation and longitudinal follow-up of patients with PKD, second opinions, genetic counseling, and the participation in epidemiologic and therapeutic studies. Dr. Czarnecki provides adult Nephrology follow-up of former Pediatric Nephrology patients with genetic and cystic kidney diseases, like Nephronophthisis, CAKUT-spectrum disorders and complex ciliopathy syndromes. In addition, Dr. Czarnecki offers Nephrology (co-)management of patients with von-Hippel-Lindau disease, Tuberous Sclerosis, as well as primary evaluation of renal cysts.