Cláudia Carvalho, PhD

Assistant Investigator

Lab Focus

Rare Genetic Diseases

Genomic variation

Disease expression


The primary goal of the Carvalho Lab is to investigate the molecular causes of rare genetic diseases and their impact on human health and development. Genomes show high levels of plasticity and undergo changes in the form of single-nucleotide variants (SNVs) and structural DNA rearrangements. In humans, genomic variants, particularly those constituted by rare and de novo alleles, are often responsible for the expression of a diverse range of phenotypes from cancer, epilepsy and neuropsychiatric diseases to birth defects and Mendelian disorders.

Although identification of pathogenic genomic variants and understanding of their functional consequences to the expression of clinical traits remain challenging, the Carvalho Lab is successfully implementing new molecular approaches to accelerate the development of clinical genomics and genetic medicine. By studying pathogenic alleles in rare genetic disorders, this PNRI lab, in collaboration with clinical and research laboratories worldwide, has identified novel genes causative of diseases and provided insights into the mutational mechanisms that lead to genomic variation in humans. The Carvalho Lab’s research highlights the underlying mechanisms of pathogenicity of distinct classes of DNA variation with translational impact to rare disease research, clinical genetic tests, and drug development.

The Carvalho Lab is a partner member of GREGoR (Genomics Research to Elucidate the Genetics of Rare diseases)—a consortium funded by the National Human Genome Research Institute (NHGRI) that seeks to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders.

“We are defining the mutational spectrum of rare genetic disorders and investigating how the formation of DNA variation dysregulates gene expression with pathogenic consequences to human development and disease expression.” 

Cláudia Carvalho, PhD

Assistant Investigator 

Lab Members

Jesse Bengtsson, PhD

Postdoctoral Fellow

Tugce Bozkurt


Christopher Grochowski, PhD

Postdoctoral Fellow – Baylor College of Medicine, TX

Katherine Helle

Undergraduate Student – University of Washington, WA

Ming Yin Lun (Cliff)


Rituparna Sinha Roy, PhD

Staff Scientist

Jakob Schuy

Graduate student – Karolinska Institutet– Sweden

Ellen Wilkey

Research Technician


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.

Research Projects


Investigating the structure and formation mechanism of pathogenic structural variants in rare diseases

Structural variants (SVs) in the form of copy-number variants (CNVs), inversions, translocations, and insertions, are responsible for the expression of diverse phenotypes, from cancer to birth defects to common traits such as epilepsy, intellectual disability, and neuropsychiatric diseases.


The impact of hidden copy-number variants to birth defects and rare genetic diseases

Investigating individuals with primary immunodeficiency and multiple individuals with Mendelian disorders of unknown molecular cause with the goal of establishing the impact of copy-number variants to a diverse range of clinical phenotypes.


Integrating genomic and deep clinical data to facilitate discovery of novel genes and disease mechanisms in rare diseases 

With the goal of evaluating the functional effects of pathogenic DNA variants in human development and cell maintenance, the Carvalho Lab has teamed up with researchers worldwide to study a skeletal dysplasia syndrome.

Cláudia M.B. Carvalho, PhD
Awards & Honors


M.Sc. Fellowship



Best Poster Award

Federal University of Minas Gerais


PhD Fellowship



Early Career Awards

TRASHER Research Fund


Postdoctoral Associate Fellowship



Young Talent scholarship, Science without borders

CNPq & CAPES/Brazil 


“Woman of Excellence”, Baylor College of Medicine

National Women’s History Month 2018