faculty

Claudia Carvalho

ccarvalho@pnri.org
Assistant Professor

Pacific Northwest Research Institute

Computational Biology

Gene Expression, Cell Cycle & Chromosome Biology

Genetics, Genomics & Evolution

Underlying the genomic architecture of rare diseases

Faculty Contact Information

Box: 720 Broadway, Seattle, WA 98122 Phone: 120-633-80694 https://www.pnri.org/research/labs/carvalho-lab/

Research Summary

The Carvalho lab studies how structural variants (SVs) are formed and how they contribute to a disease state. We utilize genomic tools such as next-generation sequencing and optical mapping to uncover pathogenic variants. Our lab is particularly interested in investigating DNA rearrangements that are challenge to detect, e.g. insertions and inversions. They can contribute to disease in unexpected ways, and are often overlooked in diagnostic screenings. Complex SVs provide clues to the mechanisms of formation of de novo events in the genome.

DEI Statement

Two key words define the main goals of my mentoring philosophy: Communication and Teamwork. Being a Latina researcher myself, those two words summarize the career path I took. They are key to increase diversity in the lab space and allowed me to establish a research program with a strong network of scientists, trainees and families interested in understanding how minimum alterations in the human genome profoundly affect our daily lives. Science can only have real societal impact with contributions of people from different cultures, genders, and countries.

Training Summary

2016-2019: Faculty Inclusion Ambassador at Baylor College of Medicine

2017: Bridges: Building a Supportive Community

2020: Mentor Training Workshop, hosted by the Gulf Coast Consortia (Dec. 2, Dec. 9 and Dec. 16, 2020). Three day workshop based in case studies, activities and small-group discussion, an interactive experience aimed at promoting discovery and understanding of the mentoring process including benefits and challenges of diversity, inclusivity and culture.

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Publications

The following publications were retrieved from PubMed:

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.

Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB.

Front Genet. 2021; (12)708348

Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders.

Cunha AL Jr, Champs APS, Mello CM, Navarro MMM, Godinho FJC, Carvalho CMB, Ferrari TCA.

Sci Rep. 2021 May 31; 1(11)11402

Craniofacial phenotypes associated with Robinow syndrome.

Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS.

Am J Med Genet A. 2020 Nov 25;

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

Zhang C, Mazzeu JF, Eisfeldt J, Grochowski CM, White J, Akdemir ZC, Jhangiani SN, Muzny DM, Gibbs RA, Lindstrand A, Lupski JR, Sutton VR, Carvalho CMB.

Am J Med Genet A. 2020 Oct 13;

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Saad AK, Marafi D, Mitani T, Jolly A, Du H, Elbendary HM, Jhangiani SN, Akdemir ZC, Baylor-Hopkins Center for Mendelian Genomics., Gibbs RA, Hunter JV, Carvalho CMBC, Pehlivan D, Posey JE, Zaki MS, Lupski JR.

Brain. 2020 Oct 1; 10(143)e83



PubMed Collection Link

Accepting Students For:

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Lab Information

Location: Pacific Northwest Research Institute (PNRI)
Building: First Hill/Capitol Hill Campus
Room: Third Floor
Phone: 120-633-80694
https://www.pnri.org/research/labs/carvalho-lab/