WELCOME TO PAWEL LISOWSKI RESEARCH WEBSITE
SOLVING MEDICAL MYSTERIES THROUGH GENOME ENGINEERING TECHNOLOGY
Decoding of undiagnosed and rare diseases
Healthcare providers are unable to discover the cause for hundreds mysterious diseases every year. Our research study aims to provide answers for patients and families affected by these undiagnosed conditions. We focus on decoding of unknown and rare diseases with the special focus on neurodevelopmental, neurological and neuropsychiatric disorders.
Genome engineering technology development
Diseases are caused by changes to the genetic code. Genome engineering technology presents prospect for decoding and treatment for diseases under investigation. We focus on genome engineering of patient specific stem cells for disease modeling and development of tools to perform effective and safe genome editing in human patients including somatic cell genome editing. These research tools will be available as a new treatments based on somatic gene therapies.
Through this study, we hope to help patients and contribute to the understanding of how the human brain and body work. Due to the complex nature of the diseases being investigated for more information about the research study and patients recruitment process please contact > Dr. Pawel Lisowski
RECENT SPECIFIC CLINICAL AND PRE-CLINICAL STUDY AIMS:
Dear Parents and Relatives of children with IRF2BPL (Interferon Regulatory Factor 2 Binding Protein Like) – related disorders:
You could find this website because your child has been diagnosed with the group of ultra-rare genetic diseases called NEDAMSS (Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures). IRF2BPL – related disorders are progressive. The symptoms get worse over time. Non symptomatic people with these disorders at some point during their life span starting to loose the ability to walk, talk, and eat. Over time, they require placement of a tube into the stomach to aid with feeding as well as a mechanical respirator to help them breath.
The symptoms are related to the broad spectrum of mutations in the IRF2BPL gene. The protein made by this gene is found in many different organs, including the brain. It is unclear how the protein made by this gene works in the body and why changes in the gene result in these disorders. The IRF2BPL may be involved in the regulation of other genes since IRF2BPL contains a special polyglutamine (polyQ) and polyalanine (polyA) tracts and such peptides are pan-transcriptional regulators and are present in various forms of neurodegenerative diseases such as Huntington’s Disease (HD), Parkinson’s Disease (PD) and Alzheimer’s Disease (AD). IRF2BPL mutations result in a short non-working protein (nonsense mutations) seem to lead to more severe symptoms than other types of mutations.
Because the long-term outlook for people with these disorders is unclear and during our work on undiagnosed disorders we discovered first patients with IRF2BPL related diseases – recently we have started intensive research on IRF2BPL. Therefore, you can participate in our collaborative (German, American, Polish and Israeli) IRF2BPL research study network by donating the patients’ cells. For basic information about our IRF2BPL.DE research initiative please visit https://irf2bpl.de/. For cells donation methods and procedures please contact Dr. Pawel Lisowski directly.
PS: RARE DISEASES ARE NOT RARE.