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The map illustrates the distribution of documented cases of PACS2 syndrome (related to PACS2 mutation c.625G>A (p.Glu209Lys) or c.631G>A (p.Glu211Lys)).

Below, you'll find the contact information for physicians who are providing care for impacted patients.

Feel free to reach out to us if you need to add any additional physicians.

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Georgia

Tinatin Giuashvili, MD

Neurologist | M.Iashvili Children's Central Hospital, Tbilisi

tikagiuashvili@yahoo.com

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Prof. Tinatin Tkemaladze, MD, PhD

Clinical Geneticist | Tbilisi State Medical University

t.tkemaladze@tsmu.edu

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Italy

Domenica Immacolata Battaglia, Associate Professor

Neuropsychiatrist | Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome

DomenicaImmacolata.Battaglia@unicatt.it

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Poland

Krzysztof Szczaluba, DSc 
Clinical Genetist | Children’s Hospital of the University Clinical Center Medical University of Warsaw

krzysztof.szczaluba@wum.edu.pl 

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Sylwia Czarnecka, MD 

Neurologist | Children’s Hospital of the University Clinical Center Medical University of Warsaw

sylwia.szymanska@uckwum.pl

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Spain

María José Sánchez Soler, MD

Clinical Genetist | Hospital Clínico Universitario Virgen de la Arrixaca, Murcia 

mj.sanchezsoler@gmail.com

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Switzerland

Prof. Christian M. Korff

Neurologist | Hôpitaux Universitaires de Genève

Christian.Korff@hcuge.ch

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Ukraine

Oleksandr Miroshnykov, MD, PhD

Neurologist | National Academy of Medical Sciences of Ukraine, Kyiv

a.mirosh@ukr.net

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United Kingdom

Jenny Higgs

Clinical Geneticist | Liverpool Centre for Genomic Medicine, Liverpool Women’s Hospital

Lwft.clingen@nhs.net

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United States

Heather Olson, MD

Neurologist | Boston Children's Hospital, Boston

Heather.Olson@childrens.harvard.edu

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Mark P. Fitzgerald, MD PhD

Nuerologist | Epilepsy Neurogenetics Initiative, Children’s Hospital of Philadelphia

ENGIN@chop.edu

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ABOUT US >

We are Malgorzata & Piotr, parents of little twin girls - one of them, Lena, is impacted by PACS2 mutation. We strive for finding the treatment for Lena and all children suffering from this syndrome.

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If you want to get engaged in research, please contact us.

If you are a caregiver of PACS2 child - do not hesitate to write to us in case of any questions - we will try to help.

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