Genetic Information

Post author:David Cunnington
Post published:May 3, 2021
Post category:Conference 2021
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Dr Emma Palmer discusses how to decipher your genetic reports – what should be included and what does it mean?

Support for SCN2A and genetic epilepsy families

Post author:David Cunnington
Post published:May 3, 2021
Post category:Conference 2021
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Suzanne is passionate about supporting families with a rare epilepsy diagnosis. She presents her research and the resources she has developed.

Understanding clinical variability for variants in the same gene

Post author:David Cunnington
Post published:May 2, 2021
Post category:Conference 2021
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Prof Lynette Sadleir discusses how variants in genes such as SCN2A can lead to different clinical presentations.

Praxis SCN2A Programs: An Update

Post author:David Cunnington
Post published:May 2, 2021
Post category:Conference 2021
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Michael Oldham and Devra Densmore discuss Praxis' rare epilepsy pipeline, specifically for SCN2A including precision based approaches.

SCN2A Research Registry in Simons Searchlight

Post author:David Cunnington
Post published:May 2, 2021
Post category:Conference 2021
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Jennifer Tjernagel outlines the work being done with the SCN2A Research Registry in Simons Searchlight.

Collaboration with families – the key to treatment success

Post author:David Cunnington
Post published:April 14, 2021
Post category:Conference 2021
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Professor Ingrid Scheffer speaks to the importance of collaborating with families for successful treatment.

Loss of function gene mutations in SCN2A: Implications and opportunities for therapeutic intervention

Post author:David Cunnington
Post published:April 14, 2021
Post category:Conference 2021
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Professor Steven Petrou explains how mutations in the SCN2A gene can lead to loss of function, and how treatments could increase function.

SCN2A Phenotypes

Post author:David Cunnington
Post published:April 14, 2021
Post category:Conference 2021
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What are the observable traits, or phenotypes, present in SCN2A-related disorders?

Quality of Life Measures

Post author:David Cunnington
Post published:March 28, 2021
Post category:Podcast
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Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment.

Ciitizen

Post author:David Cunnington
Post published:March 9, 2021
Post category:Podcast
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Ciitizen is partnering with the SCN2A community and rare disease groups to empower patients and families with access to their health data and advance research.