• As part of SOW #2 (statement of work), the yeast scientists are currently working to generate the haploid and diploid avatars in the lab. Each avatar is being generated in two different forms where the PIGN gene (containing the unique variant) is expressed at either a low or high level. The generation of the low-expression haploid avatars was completed this week, and a preliminary growth assessment is being conducted on them.
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• For SOW #3, Perlara has been reaching out to CDG physician partners to determine where skin biopsies can be done and fibroblast lines established, and shipped to Perlara’s labs. Once I have the final information from Perlara, then I will reach out to the individual families. The provisional timeline is to have skin biopsies done in Dec 2022 - Jan 2023, and to establish and grow the fibroblast lines for 2-3 months. Assuming we have successful hits from the drug screening, then testing on the fibroblasts could begin as early as spring 2023.
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• Slide 5 summarizes the variants and patients for which fibroblast lines are expected to be established. Although not all variants were selected, it is important to understand that this cross-section of variants and fibroblast lines represents 93% of the PIGN families that submitted their variant information at the start of the project. It’s fantastic that Perlara can represent almost all of the families based on their initial variant selection.

• We have raised a staggering USD $139,000 so far, and Hiran and I are expecting another $10,000 to come in through donations matched by our employers, so we are on target to hit our initial goal of $150k! Thank you all for your support and continued efforts to fundraise for the first few phases of the project!
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• As Perlara continue to work on SOW #2 and #3, we as families need to start fundraising for SOW #4, which is the cost of validating the drug hits in the yeast avatars and the patient fibroblast lines. It is difficult to estimate the cost of this phase of the project, because it depends on the outcome of the drug screening, i.e., number of drug hits, how many drugs will be tested and the granularity of the testing. Perlara has given us a high-level preliminary estimate of $75,000.
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• Hiran has already started fundraising efforts with his employer to raise $10,000 for SOW #4, so please can you start thinking about how to raise money to hit our estimated $75,000 target. We can set up a call to discuss fundraising ideas soon.

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