Assistant Professor, Department of Molecular and Human Genetics
Assistant Director, Kleberg Cytogenetics and Microarray Laboratories
Docent, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

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

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).

We have demonstrated genomic rearrangements can have long-range position effects on SOX9 and DAX1, two important genes responsible for sex determination and differentiation in humans. Using array CGH, capture chromosome conformation (3C), and FISH techniques, we are investigating the role of three dimensional chromatin structures in interphase nuclei and CNVs on long-range regulation of selected dosage-sensitive genes.

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 Kleberg 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. Derwińska K, Bernaciak J, Wiśniowiecka-Kowalnik B, Obersztyn E, Bocian E, Stankiewicz P (2008). Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9. Clin. Genet. Aug 19. [Epub ahead of print]

2. 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: 63-70.

3. 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: 182-192.

4. Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, Stankiewicz P (2007). Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am. J. Med. Genet. A. 143: 866-870.

5. Ou Z, Jarmuz M, Sparagana SP, Michaud J, Decarie JC, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P (2006). Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum. Genet. 120: 227-237.

6. Zody MC et al. (2006). DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 440: 1045-1049.

7. 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: 652-662.

8. 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: 2209-2220.

9. Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L,Park SS, Lupski JR (2003). Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am. J. Hum. Genet. 72: 1101-1116.

10. Stankiewicz P, Lupski JR (2002). Genome architecture, rearrangements and genomic disorders. Trends Genet. 18: 74-82.

For more publications, see listing on Pub Med.

CLINICAL INFORMATION:

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

CONTACT INFORMATION:

Pawel Stankiewicz, M.D., Ph.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, Rm S921
Houston, Texas 77030, U.S.A.
Mail Stop: BCM225

Phone: 713 798-5370
Fax: 713 798-2714
E-mail:

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