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Niamh's Journey
MPEI Website Links & Research
Websites
MPEI Parent Led
Medical led
Current Research
We are currently aware of 2 research groups that are looking to involve children that have been diagnosed with MPEI. In the UK there is a group led by Rachel Kneen and Amy McTague that is specifically looking into gentic causes of MPEI and another group in Boston, USA that are actively involved in investigating possible underlying causes of early onset infant epilepsy including MPEI.
If you are a parent of a child diagnosed with MPEI and you would like your child to be involved with this research, please use the reserach contact e-mails below.
UK Research - Summary by Drs Amy McTague and Rachel Kneen, Alder Hey Children’s Hospital, Liverpool, UK
In collaboration with colleagues at Great Ormond Street Hospital (Professor Cross and Dr Kurian), we are currently applying for funding to investigate the genetic basis of MPSI. We also hope to collaborate with other centres worldwide. We have started some preliminary genetic testing in some cases for a gene called PLCB1, which has been found in other cases of severe early epilepsy.
When we have secured funding we will apply for ethical approval to approach the consultants of all affected children within the UK cohort and via them, the families of children with MPSI. If the families consent to be in the study, we then hope to analyse blood samples to look for genetic abnormalities.
If we can find a genetic abnormality or mutation, it may help us diagnose MPSI more quickly in the future and avoid unnecessary and invasive tests. It may also help us understand what is going on in the brains of children with MPSI- for example if we identity a gene, we can work out which protein the gene codes for and then work out the protein’s function in the body and how a fault in this protein might lead to MPSI.
The ultimate hope would be that understanding what causes MPSI may help us in the long term to identify new treatments to improve outcome.
At the current time, there are many stages to our research proposal that must be completed before we can directly involve patients but we would be interested to hear from you if you would like to be involved.
Department of Neurology
Great Ormond Street Hospital
Great Ormond Street
London WC1N 3JH
USA Research - Boston Study
The Boston Study are investigating underlying causes of early onset epilepsy of which MPEI is included.
The research specialist Brenda Barry can be contacted at: walshresearch@childrens.harvard.edu or Brenda.Barry2@childrens.harvard.edu
Alternatively you can visit the laboratory website for more information: http://www.walshlab.org
How the Boston Study Works
Step 1:
Brenda Barry will send you an “application pack” where you fill in a family medical history form and another questionnaire for your MPEI child
They also have a "copy of medical records" form which needs to be filled in to get copies of MRI scans, EEG results and genetic tests already done from your doctors.
When this is all completed you post all the info to them (they usually pay courier charge to send it to them) but some of the info might be sent directly from your hospital.
Specialists then look over the MRI and EEG recordings and they tell you their opinion on what they find.
Step 2:
If you fit the “criteria” for their research study they will then send you a testing kit where they request blood and other samples from children and parents – all collection vials instructions etc are in the pack) bloods do not all have to be collected at the same time and can be sent back just whenever you get them done.
Step 3:
Parents already involved in this study have commented on how easy this study is to be involved with and the fact that they receive prompt responses and feedback from the lab regularly.
Further Information
Brenda J. Barry, MS, CGC
Walsh Laboratory
Licensed Genetic Counselor and Research Coordinator
Children's Hospital Boston
Phone: 617-919-4371 | Fax: 617-919-2300 | Website: www.walshlab.org
Postal details are as follows:
Address for routine postal mail:
300 Longwood Avenue, Childrens Hospital Boston-Genetics, CLS 15070-Walsh Lab, Boston, MA 02115
Address for FedEx, UPS and other courier services:
3 Blackfan Street, Childrens Hospital Boston-Genetics, CLS 15070-Walsh Lab, Boston, MA 02115
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