Pawel Stankiewicz, M.D., Ph.D.
Pawel Stankiewicz, M.D., Ph.D.
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
- Assistant Laboratory Director
Dan L Duncan Comprehensive Cancer Center
Baylor College of Medicine
Houston, Texas, United States
- MD from Medical University Of Warsaw
- 01/1991 - Warsaw, Poland
- PhD from Institute Of Mother And Child
- 01/1999 - Warsaw, Poland
- Post-Doctoral Fellowship at Baylor College of Medicine
- 01/2003 - Houston, Texas, United States
- DSc from Institute of Mother and Child
- 01/2006 - Warsaw, Warsaw, Poland
- Clinical Cytogenetics
- American Board of Medical Genetics
- Genetics of lung development; Somatic mosaicism; Molecular mechanisms and clinical consequences of genomic rearrangements.
Professional StatementGenomic Disorders: The main focus of our research are molecular bases of lung development, and, in particular, the role of non-coding regulatory elements. We have demonstrated that haploinsufficiency of the transcriptional factor FOXF1 gene on 16q24.1 results in a lethal neonatal diffuse developmental lung disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Most recently, we have reported that disruption of the TBX4-FGF10 epithelial-mesenchymal signaling in human lung organogenesis due to complex compound inheritance results in interstitial neonatal lung disorders: acinar dysplasia, congenital alveolar dysplasia, and other lethal lung hypoplasias explaining the histopathological continuum observed in these rare lethal developmental disorders of the lung.
We have found that somatic mosaicism for SNVs and CNVs that also contribute to the germline mosaicism is significantly more common than previously thought. We have shown that a considerable number of apparently de novo variants causing genomic disorders occur in the previous generation as a low-level somatic mosaicism and can thus be recurrently transmitted to future offspring. We continue to study the scale and clinical importance of this phenomenon.
We are interested in the molecular mechanisms and phenotypic consequences of genomic rearrangements. We are particularly interested in elucidating the role of higher-order genomic architectural features such as low-copy repeats, retrotransposable elements (LINEs and HERVs), and nonallelic homologous recombination (NAHR) in genomic instability.
We have described several novel neurobehavioral and neurodevelopmental disorders and identified the causative genes, e.g. PSMD12 in the Stankiewicz-Isidor syndrome (MIM 617516), BPTF in Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (MIM 617755), and TRIP12 in Mental retardation, autosomal dominant 49 (MIM 617752).
I have been also involved in design, development, validation, and implementation of customized exon-targeted microarrays for chromosomal microarray analysis (CMA) in clinical settings.
- Vincent M, Karolak JA, Deutsch G, Gambin T, Popek E, Isidor B, Szafranski P, Le Caignec C, Stankiewicz P "Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders." Am J Respir Crit Care Med. 2019 200 : 1093-101. Pubmed PMID: 31189067
- Karolak JA, Vincent M, Deutsch G, Gambin T, (…) Le Caignec C, Stankiewicz P "Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway." Am J Hum Genet. 2019 104 : 213-28. Pubmed PMID: 30639323
- Cao Y, Tokita MJ, (…) Liu P, Stankiewicz P "A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing." Genome Med. 2019 11 : 48. Pubmed PMID: 31349857
- Szafranski P, Liu Q, Karolak JA, (…) Popek E, Stankiewicz P "Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype." Hum Genet. 2019 138 : 1301-11. Pubmed PMID: 31686214
- Schulze KV, Szafranski P, (…) Hanchard NA, Stankiewicz P "Novel parent-of-origin-specific differentially methylated loci on chromosome 16." Clin Epigenetics. 2019 11 : 60. Pubmed PMID: 30961659
- Szafranski P, Kośmider E, (…), Gambin A, Stankiewicz P "LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV." Hum Mutat. 2018 39 : 1916-1925. Pubmed PMID: 30084155
- Stankiewicz P, Khan TN, Szafranski P, (…), Davis EE, Yang Y "Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features." Am J Hum Genet. 2017 101 : 503-15. Pubmed PMID: 28942966
- Gambin T, Yuan B, (…), Shaw CA, Stankiewicz P. "Identification of novel candidate disease genes from de novo exonic copy number variants.." Genome Med. 2017 9 : 83. Pubmed PMID: 28934986
- Küry S, (…), Stankiewicz P*, Isidor B* "De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder." Am J Hum Genet. 2017 100 : 352-63. Pubmed PMID: 28388435
- Zhang J, Gambin T, (…), Xia F, Stankiewicz P "Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features." Hum Genet. 2017 136 : 377-86. Pubmed PMID: 28251352
- Szafranski P, Gambin T, Dharmadhikari AV, (…), Stankiewicz P "Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins." Hum Genet. 2016 135 : 569-86.
- Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P, Gambin A "Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination." Nucleic Acids Res. 2015 February ; 43 (4): 2188-98. Pubmed PMID: 25613453
- Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, ..., Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P "Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders.." Am J Hum Genet.. 2014 95 (2): 173-82. Pubmed PMID: 25087610
- Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, ..., Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P "NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits.." Genome Res.. 2013 23 (9): 1395-409. Pubmed PMID: 23657883
- Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF, Hustead VA, Jessurun J, Hirsch R, W "Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.." Genome Res.. 2013 January ; 23 (1): 23-33. Pubmed PMID: 23034409
- Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P "Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.." Hum. Mol. Genet.. 2012 August 1; 21 (15): 3345-55. Pubmed PMID: 22543972
- Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, "Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.." Hum. Mutat.. 2012 January ; 33 (1): 165-79. Pubmed PMID: 21948486
- Ramocki MB, Bartnik M, Szafranski P, Kolodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino "Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems.." Am. J. Hum. Genet.. 2010 December 10; 87 (6): 857-65. Pubmed PMID: 21109226
- Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P "A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.." Nat. Genet.. 2009 December ; 41 (12): 1269-71. Pubmed PMID: 19898479
- Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, New "Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.." Am. J. Hum. Genet.. 2009 June ; 84 (6): 780-91. Pubmed PMID: 19500772
- American Society of Human Genetics
- European Society of Human Genetics
- Polish Society of Human Genetics
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