Please join us for an intimate conversation with PNRI’s Dr. Cláudia Carvalho and visiting clinical researcher Dr. Anna Lindstrand from Sweden, who are collaborating for the month of May here in Seattle. PNRI’s CEO Jack Faris will join them in conversation to discuss the goals of their collaboration, surprises they have encountered in their joint research, the impact of clinicians on research and vice versa, insights into how their international partnership is impacting the world of rare disease research, and details about their upcoming Hackathon.
This conversation promises to intrigue and inspire! Please join us to learn more about how PNRI’s international collaborations are shaping scientific research here in Seattle.
WHEN:
Thursday, May 23, 2024
4 – 5pm
LOCATION:
Pacific Northwest Research Institute
720 Broadway
Seattle, WA 98122
Appetizers and wine to be served.
Parking to be provided.
This is a free event, but RSVPs by May 17 are required. Space is limited. Please complete the RSVP form below by May 17 to secure your spot.
Please complete the RSVP form below by May 17 to secure your spot.
Biography
Cláudia M.B. Carvalho, PhD
Cláudia M.B. Carvalho, PhD, is an Assistant Investigator at PNRI, leading her laboratory to investigate the genetic causes of rare diseases and the biological mechanism of formation of genomic variants that impact disease expression. The overall goal of her lab research is to gain insight into the causes of human genetic diseases and to provide a working hypothesis for functional studies, biomarker and drug development that will accelerate research to cure rare genetic diseases. She earned her PhD in Biochemistry from the Federal University of Minas Gerais in Belo Horizonte, Brazil, and completed postdoctoral fellowship at the Baylor College of Medicine in Houston, Texas. Before joining PNRI, she was an Assistant Professor at Baylor for six years, where she maintains a visiting faculty appointment in the Department of Molecular and Human Genetics. She is also an affiliate faculty member with the University of Washington’s Department of Genome Sciences, and a faculty member of the Molecular & Cellular Biology Graduate Program.
Biography
Anna Lindstrand, MD, PhD
Anna Lindstrand, MD, PhD, is a Professor and Consultant in Clinical Genetics in Stockholm, Sweden. Currently she is the head of the Clinical Genetics diagnostic laboratory at Karolinska University Hospital and group leader for Rare Diseases research group at the Department of Molecular Medicine and Surgery at Karolinska Institutet. Her specific area of interest is the study of structural human genomic variation, its biological consequences and involvement in rare and common human disorders.
Her group members combine conventional and next generation genetic analysis with careful clinical assessments and functional follow up in vivo (zebrafish) and in vitro (primary cells and iPS cells). To characterize the breakpoints of chromosome rearrangements they use a variety of methodologies and next generation sequencing (NGS) platforms.
This work is truly translational! Patients are initially identified in the health care system and outlined phenotypically and cytogenetically in the clinical genetic service. Then the research part takes over aiming to outline the exact genetic rearrangement down to single gene and breakpoint level in order to correlate symptoms with a specific gene defect. Finally, their findings are returned to the health care system in the form of new information about gene function.
Questions
Contact the Development Team via our contact form or call (206) 726-1233 with any questions you may have.