Research Update: November 2025

First, I'd like to start by saying Thank You for all of your continued support. Rare disease research can sometimes feel like a long and lonely road, but your support brings connection, hope, and momentum to work that truly takes time.

Your generosity continues to move research forward in ways that simply wouldn’t be possible without this community. Below is an update on Nora’s ongoing diagnostic research, as well as a look at another exciting project you helped fund this year.

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🧠 Update on Nora’s Diagnostic Research

Research on an “N of 1” (a single, very unique diagnosis) is complex and takes time, but every step brings us closer to clarity.

Investigation into Nora's ALG-13 Variant

One of the conditions that doctors suspect may be Nora's underlying diagnosis is called ALG-13, a rare congenital disorder of glycosylation (CDG). ALG-13 can only be definitely tested for in brain tissue. Since donating brain tissue isn't an option, researchers are doing the next best thing: they’re growing brain cells from Nora’s own fibroblast cells in the lab.

Where we are now

Last December, we traveled to Mt. Sinai in New York City to visit Dr. Eva Morava and donate fibroblast cells from Nora, myself, and Sam. Those cells have since been turned into induced pluripotent stem cells (iPSCs) and are now being developed into brain organoids — tiny lab-grown models of brain tissue that allow scientists to study how her cells function.

The goal is to grow Nora’s organoids alongside two comparison groups:

• a “classic” ALG-13 variant from individuals with a common variant, known for causing ALG-13 CDG

• organoids made from my and Sam’s cells as controls

Nora’s cells grew more slowly at first, and Sam’s samples became compromised, so the step of turning them into iPSC's needs to be repeated. While this will take a bit more time, we remain deeply hopeful that this study will bring us closer to an answer, one that could confirm whether Nora’s condition is indeed a glycosylation disorder.

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🔬 Additional Research You Helped Fund: CDG Cares × Perlara

Thanks to your support, the Finding Nori Foundation also contributed to a precision medicine study led by CDG Cares in partnership with Perlara, a company pioneering rare-disease research.

What this study does

Perlara creates yeast avatars: tiny yeast models engineered to carry the same genetic variants as patients with CDG disorders such as ALG-13. These avatars let researchers rapidly test a wide variety of therapeutic compounds in the lab.

The hope:

to identify a compound that corrects or improves the cellular problems caused by the disorder, providing a potential treatment path.

Why it matters

This study includes participation from several ALG-13 families, all of whom are deeply hopeful about what these findings could unlock. While early-stage, it represents one of the most promising paths toward targeted treatment for disorders like the one Nora may have.

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💛 Thank You

Your compassion, generosity, and belief in our mission are what make this work possible.

Thank you for helping us move closer to answers, to treatments, and to hope, not just for Nora, but for every family facing a rare diagnosis.