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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Pawel Stankiewicz, M.D., Ph.D.

Pawel Stankiewicz, M.D., Ph.D.

Assistant Professor, Department of Molecular and Human Genetics

Other Positions

Assistant Director, Cytogenetics Laboratory
Docent, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Education

M.D., Medical University of Warsaw, Poland, 1991
Ph.D., Institute of Mother and Child, Warsaw, Poland, 1999
Postdoc, Baylor College of Medicine, 2000-2003
Dr. Habil. (D. Sc.), Institute of Mother and Child, Warsaw, Poland, 2006

Board Certifications

American Board of Medical Genetics: Clinical Cytogenetics

Professional Organizations

Member, American Society of Human Genetics
Member, European Cytogenetics Associations (E.C.A.)
Member of Board (2006-2010), Polish Society of Human Genetics

Research Interests

Genomic Disorders: The main focus of our research is better understanding the molecular mechanisms and phenotypic effects of genomic rearrangements. We are particularly interested in elucidating the role of higher-order genomic architectural features such as low-copy repeats (LCRs) and AT-rich cruciform structures in genomic instability. LCRs have been shown to mediate non-allelic homologous recombination and stimulate nonhomologous end joining in chromosome rearrangements. Using several different molecular cytogenetic techniques, including oligonucleotide array comparative genomic hybridization (array CGH), we are identifying and characterizing the breakpoints of submicroscopic chromosome deletions and duplications to infer mechanism and study patients to determine potential phenotypic consequences of copy-number variation (CNV).

Recently, we have demonstrated that haploinsufficiency of the transcriptional factor FOXF1 gene on 16q24.1 results in a lethal neonatal diffuse developmental disorder alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV). Infants affected with ACD/MPV develop severe respiratory distress with pulmonary hypertension within the first two days of life and despite of intensive care die usually within first few days of life. Up to 80 percent of infants with ACD/MPV have additional malformations affecting the cardiac, gastrointestinal, and genitourinary systems that resemble VACTERL association. In contrast to the association of point mutations in FOXF1 with bowel malrotation, microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, likely due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes. These differences reveal the phenotypic consequences of gene alterations in cis.

Clinical diagnostics: In February 2004, a BAC/PAC clone-based custom targeted array CGH, also known as Chromosome Microarray Analysis (CMA), has been implemented in clinical diagnosis in the Cytogenetics Laboratory. The FISH core research facility that I supervised, contributed to CMA chip design, development, validation and expansion of each version of the microarray. Recently, CMA has been transitioned to targeted oligo-emulated microarrays. We continue to improve and develop novel versions of CMA to increase the detection rate and enable better genotype-phenotype correlations.

Selected Publications

  1. Nagamani SCS, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong C, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P (2009). Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J. Med. Genet. [Epub ahead of print]
  2. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P (2009). Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum. Genet. [Epub ahead of print]
  3. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MMJ, Murray M, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C (2009). 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. 84(6): 780-91. [Pub Med]
  4. Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P (2009). Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum. Mol. Genet. 18(19): 3579-93. [Pub Med]
  5. Derwińska K, Smyk M, Cooper ML, Bader P, Cheung SW, Stankiewicz P (2009). PTCH1 duplication in a family with microcephaly and mild developmental delay. Eur. J. Hum. Genet. 17(2): 267-71. [Pub Med]
  6. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A (2008). Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat. Genet. 40(12): 1466-71. [Pub Med]
  7. Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P (2007). Male-to-female sex reversal associated with an ~250 kb deletion upstream of NR0B1 (DAX1). Hum. Genet. 122(1): 63-70. [Pub Med]
  8. Stankiewicz P, Beaudet AL (2007). Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr. Opin. Genet. Dev. 17(3): 182-92. [Pub Med]
  9. Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P (2005). Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am. J. Hum. Genet. 76(4): 652-62. [Pub Med]
  10. Stankiewicz P, Shaw CJ, Withers M, Inoue K, Lupski JR (2004). Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res. 14(11): 2209-20. [Pub Med]

More Publications (PubMed)

Contact Information

Pawel Stankiewicz, M.D., Ph.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, BCM 225
Houston, TX, 77030, U.S.A.

Phone: 713-798-5370
E-mail:

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