Reconstruct the case
Preserve the exact molecular record, original sources, 15 clinical lanes, chronology, state windows, interventions, recovery, and explicit gaps.
PROGRAM & PURPOSE
Family-founded evidence infrastructure for ASH1L.
The Hub organizes fragmented molecular reports, clinical records, longitudinal family observations, and experimental literature into a source-traceable framework for clinical recognition and research design.
WHY THIS EXISTS
A diagnosis names the gene. It does not organize the life course.
ASH1L-related findings unfold across specialties, settings, and years. The program exists to preserve those connections while keeping observation, formal evidence, and interpretation visibly separate.
Compare responsibly
Use the correct person, pedigree, molecular, age, sex, source-depth, and record-backed denominator for the question being asked.
Translate the signal
Connect source-supported human observations to measurable cell, tissue, developmental, and physiological questions without presenting a hypothesis as proof.
HOW THE WORK DEVELOPED
From disconnected records to a structured evidence system.
The work did not begin with a finished theory. Its structure developed as families asked which observations repeated, which differed, what changed over time, and what evidence could actually answer the next question.
Three mothers connected what the records kept separating.
Families began comparing molecular reports, clinical histories, and change over time when genetics, development, sleep, neurologic events, oral function, GI, ENT, growth, medication response, behavior, and school function were still being documented in isolation.
Individual histories became structured case evidence.
Original records, parent-reported formal content, direct observations, missing information, and hypotheses were separated. Each case was organized by molecular finding, age, clinical lane, timing, context, persistence, and recovery.
Cross-case signals became testable questions.
Repeated observations were compared without treating relatives, duplicated public records, incomplete histories, or temporal associations as independent proof.
The work expanded into an international evidence initiative.
The current connected roster includes 61 people across 19 countries, with a structured phenotype architecture, longitudinal case reconstruction, public molecular sourcebook, and an agenda designed to support investigator-led research.
CO-FOUNDERS
Founded together. Built to connect the whole ASH1L story.
Three mothers began connecting clinical histories, molecular reports, and changes over time that were being separated by specialty, record, family, and country.
THREE CO-FOUNDERS · ONE SHARED FOUNDATION
Abbey Soyars
Carly Clifford
Franci Krasko
THE SHARED BEGINNING
No single appointment, test, or specialty can explain a person's full course.
The co-founders brought families into one evidence conversation and established a common standard: preserve the whole record, keep formal evidence separate from reported history and interpretation, and turn repeated observations into questions that can be tested.
Connect the full course.
Molecular findings, development, neurologic state, sleep, GI, ENT, immune, autonomic, medication, and daily function belong in one longitudinal record.
Protect the evidence boundary.
Formal records, reported history, direct observation, missing information, and hypothesis remain visibly distinct.
Build questions researchers can use.
Patterns are compared with the correct person, pedigree, molecular, age, sex, and source-depth denominator.
SCIENTIFIC PERSPECTIVE
Human questions translated into testable biology.
Scientific perspective during development of this family-founded work has helped frame how source-supported human observations can be translated into experiments that separate functional dosage, cell identity, developmental timing, circuit state, and measurable outcome.
SCIENTIST · MICHIGAN STATE UNIVERSITY
Jin He, MD, PhD
Associate Professor · Biochemistry & Molecular Biology · Genetics & Genome Sciences Program
The He Lab studies how chromatin-modifying enzymes regulate gene expression during development and disease using biochemical, cell-based, computational, and animal-model approaches.
ONGOING SCIENTIFIC DIALOGUE
Abbey Soyars has maintained ongoing, extensive correspondence and scientific discussions with Jin He, MD, PhD, from early in the initiative. Their dialogue has connected case-derived questions with ASH1L chromatin biology, developmental timing, experimental models, and measurable mechanisms—helping refine which observations are ready for testing and which remain hypotheses.
This is an independent scientific exchange. It does not represent clinical care, study enrollment, a formal research partnership, an institutional affiliation, or endorsement.
ASH1L EXPERIMENTAL FRAME
Published evidence and active questions remain distinct.
Developmental gene regulation
Neural-lineage Ash1l loss in mice altered developmental gene programs, cortical development, myelination, and later cognitive and behavioral measures.
Primary study ↗Circuit excitability and state
Ash1l-deficient mouse models support questions about neural hyperactivity, sleep disruption, induced-seizure threshold, and excitation–inhibition balance.
Primary study ↗E/I study ↗Cell-type and timing resolution
The NIH-funded program asks how excitatory neurons, inhibitory neurons, and astrocytes contribute across developmental stages; those lineage studies are active questions, not completed human evidence.
Evidence boundary. Published models and active research directions provide mechanistic context. They do not establish a human symptom mechanism, treatment indication, or individual response prediction.
NIH-funded ASH1L program ↗WITH GRATITUDE
Scientific perspective shared directly with the family community.
Abbey Soyars, Carly Clifford, and Franci Krasko thank Kristen Brennand, PhD, and Ellen J. Hoffman, MD, PhD, for presenting during the family call and sharing scientific perspective with the ASH1L community. Their generosity helped the group frame family-derived observations more clearly, strengthen evidence boundaries, and identify questions suitable for rigorous study.
FAMILY CALL PRESENTER · YALE
Kristen Brennand, PhD
We thank Dr. Brennand for presenting during the family call and for the scientific feedback and publication guidance that helped sharpen how molecular and clinical signals are organized, compared, and communicated without exceeding the evidence.
Yale profile ↗FAMILY CALL PRESENTER · YALE
Ellen J. Hoffman, MD, PhD
We thank Dr. Hoffman for presenting during the family call and for sharing scientific perspective that helped connect community questions with clearer clinical and research communication.
Yale profile ↗Acknowledgment boundary. This gratitude reflects individual participation and perspective only. It does not imply Yale sponsorship, institutional review, authorship, clinical responsibility, a formal partnership, institutional affiliation of the initiative, or endorsement.
PROGRAM SCOPE
Built for recognition, comparison, and research readiness.
What it is
A family-led, clinician-connected, de-identified clinical evidence and translational research program.
What it does not claim
It is not a prevalence registry, a substitute for medical care, or proof that a repeated observation has one shared cause.