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

Aligning Expectations and Effective Communication (GS CIMER)

Mentor Training Workshop: 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. (Gulf Coast Consortia) – December 2020

Bridges: Building a Supportive Community – 2017

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

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Publications

The following publications were retrieved from PubMed:

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR.

Am J Hum Genet. 2022 Dec 1; 12(109)2270-2282

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.

Du H, Jolly A, Grochowski CM, Yuan B, Dawood M, Jhangiani SN, Li H, Muzny D, Fatih JM, Coban-Akdemir Z, Carlin ME, Scheuerle AE, Witzl K, Posey JE, Pendleton M, Harrington E, Juul S, Hastings PJ, Bi W, Gibbs RA, Sedlazeck FJ, Lupski JR, Carvalho CMB, Liu P.

Genome Med. 2022 Oct 27; 1(14)122

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.

Duan R, Hijazi H, Gulec EY, Eker HK, Costa SR, Sahin Y, Ocak Z, Isikay S, Ozalp O, Bozdogan S, Aslan H, Elcioglu N, Bertola DR, Gezdirici A, Du H, Fatih JM, Grochowski CM, Akay G, Baylor-Hopkins Center for Mendelian Genomics, Jhangiani SN, Karaca E, Gu S, Coban-Akdemir Z, Posey JE, Bayram Y, Sutton VR, Carvalho CMB, Pehlivan D, Gibbs RA, Lupski JR.

HGG Adv. 2022 Oct 13; 4(3)100132

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI.

Brain. 2022 Sep 14; 9(145)3308-3327

Complex genomic rearrangements: an underestimated cause of rare diseases.

Schuy J, Grochowski CM, Carvalho CMB, Lindstrand A.

Trends Genet. 2022 Nov; 11(38)1134-1146



PubMed Collection Link

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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/