Meeting #4 Update: Momentum, Milestones, and New Discoveries in SOVM Research

We’ve just wrapped up Meeting #4 of the Sleep-Onset Oscillatory Vasomotor Myoclonus (SOVM) project, and the progress is exciting on every front — from participant enrollment to fresh scientific insights that reinforce our neurovascular–ion channelopathy model.

1. Welcoming New Expertise

This meeting was especially energizing because we welcomed Dr. Erika Schwarz Taylor, PhD in genomics, to our team. Erika brings both academic and industry expertise, and she’s already brainstorming ways to help interpret our growing dataset of Whole Genome Sequencing (WGS) results. She’s works within Sequencing .coms platform, which will streamline our cohort data processing and analysis. As a Sequencing Success Coach, she regularly works with individuals navigating uncertain genetic findings. She noted that uncertain variants often appear in patient data, and that interpretive support can help frame them in context — a skill she could bring to your cohort. Erika brings hands-on genomics analysis skills, a direct line into Sequencing.com’s tools and processes, a sensitivity to patient interpretation needs, and a willingness to push forward on IRB and organizational issues.

2. Our Expanding Cohort

We now have 32 participants in the genetics study with WGS and a few more with Whole Exome Sequencing (WES). Early AI-assisted analysis is revealing what we suspected — our group carries an atypically high “polygenic load” of functional sodium, calcium, and potassium ion channel variants. These variants cluster in interconnected pathways that control neuronal excitability, oscillatory stability, and vascular tone — exactly the areas we believe are disrupted in SOVM.

3. Deepening the Genetic Story

During the meeting, we reviewed family-level genetic overlaps between myself, my niece, and my nephew. All three of us carry multiple protein-altering variants in these key ion channel genes — far more than typically seen in the general population. As Dr. Jay Lombard explained, this kind of clustering raises the likelihood of altered firing thresholds, oscillatory instability, and neurovascular coupling issues, making our SOVM framework all the more relevant.

Jay also explained my experience of hypnagogic hallucination, via "REM intrusion":

"Normally, the brainstem’s motor activity is inhibited during certain sleep phases via ion channel–gated mechanisms. In ion channelopathy, those stabilizing mechanisms can falter — allowing REM motor programs to intrude into non-REM states, creating vivid hallucinations or dream enactment at sleep onset."

Jay went on to say that::

When patients get genetic testing, one of the first questions they ask is “is there something that can be done about it?” and his answer is yes — because in many cases you can “reverse-engineer” the problem. His approach is to look at the specific mutation, then identify small molecules (often repurposed drugs) that can down-regulate the pathological gene or otherwise counteract its effects.

In other words, he explained that the genetic finding isn’t just a static fact — it can guide targeted therapy development, even if the treatment wasn’t originally designed for that condition. This is part of how he thinks about moving from a genetic diagnosis to an actionable treatment plan.

4. The Literature is Catching Up

Thanks to our newly compiled Relevant Articles, we now have stronger literature support:

• Voltage-gated ion channels in sleep review (Zhang et al., 2024) confirms that Nav, Cav3.x, and K⁺ channels directly regulate sleep-onset oscillations in multiple animal studies, with dysfunction fragmenting NREM and altering transitions.

• Fultz et al., Science (2019) provides a core physiologic bridge, showing how CSF pulsations and vascular tone are tightly linked to slow-wave activity — exactly the kind of coupling we believe is failing in SOVM.

• RBD and REM switch research (Vetrivelan et al., 2013) parallels our “hybrid state” idea, where motor inhibition fails or mistimes during the shift into sleep.

**These papers strengthen our model: SOVM as an ion channelopathy–driven oscillation–vasomotor mismatch disrupting sleep-state boundaries.**

5. Strategy and Next Steps

Erika raised the question of whether we’d need a control group for the genetic analysis. Jay’s response was:

• At this stage, a control group isn’t necessary. He explained that right now the focus should be on collecting enough symptomatic cases and showing the consistent presence of sodium channel variants.

• A control group would only really be required later, if and when you get to the stage of a formal drug trial (e.g., comparing “Ion Channel Blocker A vs. B” in patients vs. controls).

    • He added: “I don’t think initially that you need a genetic control group because nobody has normal genes” (meaning everyone carries some variants, so the real signal will come from comparing frequencies and penetrance rather than trying to find perfectly “clean” genomes).

Instead of trying to find “perfectly normal” genomes, we could:

• Run a comparative analysis inside your cohort and then compare it statistically to general population data that already exists.

• Use odds ratios, similar to what’s done in Genome-Wide Association Studies (GWAS), to quantify how often certain variants (e.g., SCN1A, CACNA1H) appear in your symptomatic group versus population baselines.

• This approach would let you measure penetrance (the likelihood that carrying a variant leads to the phenotype) without assembling a brand-new control cohort.

In other words, rather than needing a traditional case–control setup right now, you can lean on statistical comparisons with large genomic databases. That’s enough to validate a signal and strengthen your paper, while saving the “true control group” for later interventional studies.

Dr. Lombard recommends a deliberate sequence: Complete data gathering → Publish in a high-impact neurology or genetics journal → Approach pharmaceutical partners. Upcoming tasks:

• Finalizing our intake form to capture core symptoms (headache, seizures, etc).

• Clarifying IRB requirements for Sequencing.com analysis.

• Contacting Columbia ion channel researchers.

• Drafting our case series, focusing on about 10 most phenotypically representative participants.

6. Medications & Therapeutics

While Briviact and methazolamide remain on our radar, Dr. Lombard advises caution: we need stronger published evidence before approaching pharma, given access and regulatory barriers.

Why This Matters: No formal literature yet defines SOVM — but our research may change that. By combining genetics, autonomic physiology, neurovascular coupling, and lived experience, we’re building the first cohesive framework for this overlooked condition. With each meeting, we’re getting closer to not just describing SOVM, but unlocking paths to treatment.

See the new articles below, how they fit our condition and SOVM theory:

New SOVM Articles.docx

Download DOCX • 36KB

See a sample of our Project Overview paper for researchers:

SOVM Project Overview Gen1.docx

Download DOCX • 29KB

Our Researchers:

Dr. Jay Lombard

Dr. Erika Taylor