Wecome to the New Website of the ATP1A3 Disease Symposium !

When:
We 19th - Fr 21st  October 2022
with a formal evening dinner with a Scottish welcome on Thursday 20th October.

Where:
The Royal College of Physicians of Edinburgh,
9 Queens Street, Edinburgh and Online.

Abstract submission:
To submit an oral or poster presentation, please email: support@ahcuk.org by 30 September 2022.

Registration for the 3 days hybrid event is now open for researchers and clinicians via [ this link ]. and closes 21 September  2022  for in person attendees and 5 October for the on-line viewers.  
Family members who wished to attend should contact the local organisers via support@ahcuk.org.

The Organising Committee includes Prof Sanjay Sisodiya (Chair), Dr Simona Balestrini, Mrs Katherine Behl, Dr Johanna Brown, Dr Steve Clapcote, Prof Helen Cross, Dr Ailsa Mclellan, Dr Aikaterini Vezyroglou.

NEW!  PROGRAM

Our Mission and Vision

The start of the ATP1A3 in disease Symposia was made in 2012 after the ATP1A3 gene discovery for Alternating Hemiplegia of Childhood. ATP1A3 mutations were already found in 2004 to be associated with a very rare neurological disease rapid-onset dystonia-parkinsonism (RDP) and are now implicated in a growing number of neurological conditions.

The ATP1A3 in disease Symposia bring together prominent scientists, clinicians and family foundations to:
  • discuss the role of the ATP1A3 gene in rare neurological diseases.
  • present the further progress of the research on AHC, RDP, CA(P)OS and other ATP1A3-related diseases.
  • discuss various symptomology and how to address them to improve quality of life for patients now and in respect to clinical trials.
  • include new research and clinical teams in the work ongoing.

Standing Committee (SC)

The Standing Committee's Main tasks include:
  • select the Organisers of each annual meeting;
  • review and advising the Organisers(committee) on the meeting program, budget and organisation, according to the developed Guidelines.
  • ensure that dedicated funds are gathered and passed from one annual host to the next;
  • maintain and update a dedicated web site;
  • collect, store and publish information on the meetings;
  • communicate the outcomes of the meeting and promote and advertise the meeting and the cause of ATP1A3-related diseases community.

Kevin C. Ess

Dr. Ess graduated from the University of Cincinnati with a B.M. in Music Performance (1989). He then earned a PhD in Developmental Biology (1996) and a M.D. degree (1998) from the University of Cincinnati. After an internship in Pediatrics at Denver Children's Hospital, then did a Child Neurology residency at Washington University, St. Louis Children's Hospital. Dr. Ess then completed fellowship training in Pediatric Neurophysiology at Washington University, St. Louis Children's Hospital as well as post-doctoral research in Dr. David Gutmann's laboratory. He was an Instructor of Neurology and Pediatrics at Washington University in St. Louis from 2004-2006.

Dr. Ess joined the faculty at Vanderbilt University Medical Center in 2006 and is currently Associate Professor in the Departments of Pediatrics and Neurology. He is the Division Director of Pediatric neurology and Neurologist-in-Chief of Monroe Carrell Children's Hospital at Vanderbilt where he holds the Gerald M. Fenichel Chair in Neurology. He is also a member of the Vanderbilt Kennedy Center for Research on Human Development. His research interests are on mechanisms of normal cortical development and how genetic aberrations result in brain malformations, epilepsy, and autism. His clinical activities focus on the management of intractable epilepsy in children. This includes medical therapies as well as diet and surgical management. He has a special interest in the diagnosis, treatment, and the basic science of the genetic disorders Tuberous Sclerosis Complex and Alternating Hemiplegia of Childhood.

Contact Information: Kevin C. Ess M.D., Ph.D., Associate Professor of Pediatrics and Neurology, Chief, Pediatric Neurology, Vanderbilt University Medical Center, Nashville, TN USA 37232, Phone: 615-936-5536, kevin.ess@vanderbilt.edu.

Karin Lykke-Hartmann

Karin Lykke-Hartmann, associate professor in Biomedine. Educated as a molecular scientist. Main interest is working on Atp1a3 mouse model, with particular interest in drug screening, neurotransmitter signaling, and cellular mechanisms for Atp1a3-related pathologies (e.g Holm et al, Scientific Reports, 2016).

Contact info:
Department of Biomedicine and Department of Clinical Medicine, Aarhus University. kly@biomed.au.dk ::: www.biomed.au.dk

Hendrik Rosewich

Dr. Rosewich, MD is an associate Professor, pediatric neurologist, senior physician and Assistant Medical Director in the Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology at the University Medical Center Göttingen at Georg August University in Göttingen, Germany.

From the very beginning his clinical and basic research interests focused on the etiology and pathogenesis of rare neurometabolic diseases including peroxisomal disorders like Zellweger-Syndrome and X-linked Adrenoleukodytrophy as well as rare Movement Disorders like Alternating hemiplegia of childhood. Besides primary care for affected children with these disorders he is especially interested in the investigation of the pathogenesis of Alternating hemiplegia of childhood and X-linked Adrenoleukodystrophy to answer essential questions for the development of therapeutic options.

Contact info: Hendrik Rosewich, MD, Associate Professor and Assistant Medical Director, Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Faculty of Medicine, Office Postal Address: Robert-Koch-Strasse 40, D-37075 Göttingen, Germany, Phone:+49 551-39 67019 Fax: +49 551-39 13068899, hendrik.rosewich@med.uni-goettingen.de

Tsveta Schyns

Tsveta Schyns-Liharska is the co-founder the ATP1A3 Disease Symposia and has taken active part in the Organising Committees of  Brussels (2012), Lunteren (2014), Bethesda (2015) and London (2016) meetings.

She has both, professional and personal, long standing interest in researching Alternating Hemiplegia (AH) in Childhood: founded the European Network for Research on AH (www.enrah.net) in 2003 and received competitive European funding and conducted the ENRAH for SMEs and nEUroped projects from 2005 till 2011.

Tsveta is molecular geneticist, based in Brussels, Belgium. She works as expert in evaluating scientific projects at the European Commission and at the European Medicines Agency's Paediatric Committee. Email: ts@enrah.net.

Previous meetings

The programms of the previous meetings:

1. Brussels 2012
2. Rome 2013
3. Lunteren 2014
4. Bethesda 2015
5. London 2016
6. Tokyo 2017
7. Chicago 2018
8. Reykjavik 2019
9. Stockholm 2021



Contact Information

For any enquiries or further information on ATP1A3 meetings:
atp1a3disease@gmail.com

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