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ASH1LClinical & Research Hub

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A CALM FIRST STEPNew to ASH1L? Start hereUnderstand the diagnosis, prepare for next steps, and find support without reading the entire site.

About

Purpose, community, methods, and family perspective.

Purpose & teamWhy the site exists and who leads it.Who is representedAge, sex, countries, molecular findings, and limits.Methods & privacyEvidence labels, count rules, and privacy.What families are seeingA first-person view of patterns families are seeing.

Clinical

Clinical guidance, changes over time, searchable areas, and family-approved profiles.

Clinical guideChoose the chapter that matches the current clinical question.Development & memorySeparate ability, access, state, and documented loss.Natural history & recoveryTrack baseline, context, change, measurement, action, and recovery.Clinical atlasSearch across 15 areas of health, development, and daily function.Case profilesRead family-approved, de-identified longitudinal histories.

Biology

Gene, protein, variants, cells, tissues, and mechanism.

Gene & biologyDosage, protein structure, chromatin, and models.Variant landscapeMolecular classes, recurrence, and interpretation limits.Tissue & cell biologyExpression, experiments, cell states, and open questions.

Research

Priorities, researcher conversations, evidence, and collaboration.

Research prioritiesTestable questions, measurements, and study priorities.Research conversationsWritten responses from ASH1L researchers.Evidence libraryScientific sources organized by question and evidence type.

Resources

First steps, practical tools, clinician guidance, and definitions.

Newly diagnosedUnderstand the result and choose first steps.Tools & downloadsPDF guides, fillable worksheets, and public data.Clinician orientationEvidence and first-encounter priorities.Plain-language glossaryDefinitions of recurring ASH1L terms.

About

About

Purpose, community, methods, and family perspective.

Purpose & teamWhy the site exists and who leads it.Who is representedAge, sex, countries, molecular findings, and limits.Methods & privacyEvidence labels, count rules, and privacy.What families are seeingA first-person view of patterns families are seeing.

Clinical

Clinical

Clinical guidance, changes over time, searchable areas, and family-approved profiles.

Clinical guideChoose the chapter that matches the current clinical question.Development & memorySeparate ability, access, state, and documented loss.Natural history & recoveryTrack baseline, context, change, measurement, action, and recovery.Clinical atlasSearch across 15 areas of health, development, and daily function.Case profilesRead family-approved, de-identified longitudinal histories.

Biology

Biology

Gene, protein, variants, cells, tissues, and mechanism.

Gene & biologyDosage, protein structure, chromatin, and models.Variant landscapeMolecular classes, recurrence, and interpretation limits.Tissue & cell biologyExpression, experiments, cell states, and open questions.

Research

Research

Priorities, researcher conversations, evidence, and collaboration.

Research prioritiesTestable questions, measurements, and study priorities.Research conversationsWritten responses from ASH1L researchers.Evidence libraryScientific sources organized by question and evidence type.

Resources

Resources

First steps, practical tools, clinician guidance, and definitions.

Newly diagnosedUnderstand the result and choose first steps.Tools & downloadsPDF guides, fillable worksheets, and public data.Clinician orientationEvidence and first-encounter priorities.Plain-language glossaryDefinitions of recurring ASH1L terms.

Search ConnectFamilies · Clinical · Research

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Search family-approved case profiles, clinical chapters, research evidence, tools, all 15 clinical areas, and plain-language definitions. Search includes only public ASH1L.org pages.

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Content typeSite section

Content type

All public content36 Overview pages6 Clinical chapters2 Published case profiles20 Atlas areas3 Evidence4 Tools1 Glossary terms0

Site section

Every section36 Clinical30 Biology0 Research0 Resources2 Families & about4

36 results for “school” · showing 1–15

Atlas areaClinical · Atlas · Life course

Function / school / adult

Best match: Information available for Function / school / adult

Information available for Function / school / adult

Open result Clinical chapterClinical · Clinical

Development, language & memory

Best match: What to notice, what to bring, and when urgent care applies.

Open the fillable Function & State Tracker Open the fillable School & Therapy Profile → General safety references: CDC stroke warning signs ↗ CDC seizure first aid ↗ MedlinePlus sudden confusion ↗

Open result PageResources · Resources

Tools & downloads

Best match: School & therapy profile

Support participation Families · schools · therapists School & therapy profile Use this when: Support needs or reliable access vary across settings.

Open result Case profileClinical · Clinical · Case profiles

NM_018489.3:c.8120dup — Ages 11–15 ASH1L case profile

Best match: Early bedtime, daytime naps, and after-school fatigue

She prefers an early bedtime and tires quickly after school.

Open result Case profileClinical · Clinical · Case profiles

NM_018489.2:c.1043C>G — Ages 6–10 ASH1L case profile

Best match: School, function, and family care

Epilepsy also reaches into school life: his mother reports that a convulsion at led to hospital care.

Page 1 of 3

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ASH1LClinical & Research Hub

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school

Open result

Case profileClinical · Clinical · Case profiles

p.(Phe1310Tyrfs*15) — Ages 6–10 ASH1L case profile

Best match: School supports

Visual teaching is central to his school access.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.3:c.1885_1888delinsTAA — Ages 6–10 ASH1L case profile

Best match: Learning, school, and everyday function

Her school supports include an individualized curriculum, specialized educational and language groups, and weekly speech-language support.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.3:c.340A>G — Ages 11–15 ASH1L case profile

Best match: School and weekly supports

He attends school and participates in a substantial weekly support program.

Open result

Case profileClinical · Clinical · Case profiles

arr[GRCh38] 1q22(155454274_155539091)x1 — Ages 11–15 ASH1L case profile

Best match: Reading, writing, memory, and school

She has been educated in a specialist-school setting since early childhood.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.2:c.3838C>T — Ages 11–15 ASH1L case profile

Best match: Learning, memory, and school supports

In kindergarten, speech therapy was her only formal school support.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.3:c.2550delT — Ages 26–30 ASH1L case profile

Best match: Early development and school-age change

At around age three, she recited poems learned at school, presented onstage during school performances, and remembered her classmates’ names.

Open result

Case profileClinical · Clinical · Case profiles

p.Ser1635Cysfs*18 — Ages 11–15 ASH1L case profile

Best match: Communication, learning, and school

He is a middle-school student with an individualized education program.

Open result

Case profileClinical · Clinical · Case profiles

NM_001366177.2:c.5756G>A — Ages 11–15 ASH1L case profile

Best match: The 2025-26 school picture

The available multidisciplinary school records span the 2025–26 school year.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.2:c.6502G>T — Ages 16–20 ASH1L case profile

Best match: School completion and the transition to adulthood

During high school, the family’s planning gradually shifted away from a traditional college path and toward life skills, vocational preparation, supported independence, safety, and meaningful participation in the community.

Open result

Case profileClinical · Clinical · Case profiles

NM_018489.3:c.6436C>T — Ages 1–5 ASH1L case profile

Best match: Development, communication, learning, and school

Earlier school material described weekly early-childhood support and approximately monthly occupational, physical, and speech-language therapy, so the implemented frequency may have changed during the school year.

Open result