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:

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF.

Hum Mutat. 2022 Jul; 7(43)900-918

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB.

HGG Adv. 2022 Jan 13; 1(3)100074

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.

Abdala BB, Gonçalves AP, Dos Santos JM, Boy R, de Carvalho CMB, Grochowski CM, Krepischi ACV, Rosenberg C, Gusmão L, Pehlivan D, Pimentel MMG, Santos-Rebouças CB.

Eur J Med Genet. 2021 Dec; 12(64)104367

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics., Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D.

Am J Hum Genet. 2021 Oct 7; 10(108)1981-2005

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

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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/