What should I ask in my genetics appointment for SYNGAP1?

When you have a child with a rare disease, you can’t have too many friends

What is the difference between a geneticist and a genetic counselor?

How do I prepare for this meeting?

  • Read the existing articles from SRF linked below.
  • Know the address(es) of your variant(s) Most variants have both a c. and p. address, they are two ways to describe the same thing. Think of it as a street address and GPS coordinates for the same house. There is important information in these addresses and it is good to have it explained. Can’t wait? Read this blog post to learn about the meanings: Understanding your genetic report with SYNGAP1
  • Know the classification of your variant(s) Each variant has a classification from 1 to 5, from pathogenic to benign. These reflect the scientific community’s current understanding of whether that variant causes disease, using information from medicine, biology and computer modeling.
  • Bring a notebook.

How many variants do you have?

Specific questions to ask about your SYNGAP1 mutation

  1. A VUS means the scientific community is not yet sure of the effects. This could mean there are more tests you can do now to understand if this mutation is disease-causing. For intronic mutations you should ask for RNA sequencing to understand the impact of the mutation.
  2. For missense mutations you should explore building an iPSC for the mutation if it doesn’t already exist. As long as you have a VUS, you should follow up annually with the geneticist and testing company to see if the classification of the variant has changed. You should also ask all the questions below for P/LP mutations.
  1. What does every single letter, number & symbol mean in the genetic report of the variant
  2. How far from therapies are we? Which kind of therapies will this kind of mutation be amenable to?
  3. How many other patients have this mutation? We find that connecting families with the same variant is usually helpful.
  4. Who are the best local clinicians for kids with complex genetic epilepsies/neuro developmental disorders?
  5. What is new in the literature that impacts our situation?
  6. I would like to come back in two years to find out how the field has changed.
  7. Have you heard about Ciitizen, there are over 100 patients signed up with de-identified data available for research. If you are interested, please contact SRF!

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SynGAP Research Fund Updates

SynGAP Research Fund Updates

SynGAPResearchFund.com (est. 2018) improves the quality of life of #SynGAP patients via research & development of treatments, therapies & support systems.