Project 8p

Cycle 1

Web:

Contact:

Chromosome 8p disorders are rare genetic conditions with approximately 350 patients around the world and counting. The majority of affected individuals have developmental delays including disordered acquisition of cognitive and social competence and delays in reaching developmental milestones.

Last updated 04/30/2026

Clinical

Disease Class

Epilepsy and seizure disorders

Genetic diseases

Intellectual disability and developmental syndromes

Neurological diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Endocrine

Metabolic

Muscular / Skeletal

Nervous / Sensory

Organs

Bones

Brain

Connective tissue / joints

Eyes

Heart

Intestines

Kidneys

Liver

Mouth / teeth

Muscles

Nerves

Pancreas

Skin

Stomach

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

None specified / unknown

Contributory Genes

None specified / unknown

Type of Inheritance

De novo

Newborn Screening

Yes, in some states

Disease Mechanism(s)

Abnormal cell proliferation

Protein aggregation

Age of Onset

Infancy (age 0-1)

Prebirth

Average Age at Diagnosis

Early childhood (age 1+-5)

Middle childhood (6-11)

Life Expectancy

Adulthood (age 18-64)

Affected Sex(es)

Female

Male

National Prevalence

101-1000

Global Prevalence

10000+

National Incidence

Less than 10

Global Incidence

Less than 10

Symptoms / Phenotypes

autism

autistic behavior

balance problems

cardiac abnormalities

developmental delay

distinctive facial features

feeding difficulties

growth delay / deficiency

hyperlaxity / joint laxity

hypertonia

hypotonia

intellectual disability

movement disorders / ataxia / tremor

seizures / epilepsy

sensory processing disorder / sensory hypersensitivity

sleep disorders

speech problems / apraxia

vision problems

Biomarkers

Diagnostic

· chromosomal genetic tests

Prognostic

· NFL

Existing Therapies

Complementary and Alternative treatments

Regulatory Agency-Approved for Symptom Relief

· seizure medication

Therapies in Development

Antisense oligonucleotide (ASO) therapy

RNA interference (RNAi) therapy (siRNA, etc.)

Repurposed drug

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Data analysis

Data sharing

Focus group participation or coordination

Funding

Recruitment and outreach to patients

Sample provision

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

LCLs

NPCs

Other

Plasma

Cell Lines, Institution

Harvard University

Mt. Sinai

Sampled

Van Andel Institute

Yale University

Cell Lines, Involvement

Funded

Own

Cell Lines, share

All our cell lines are freely available

Disease Model

Organoids

Zebrafish

Disease Model, Involvement

Consulted

Funded

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

Challenges in chromosome agnostic methods in understanding biology and preclinical discovery for neurological symptoms

Clinical Trial Role

Not involved

Clinical Trial Types

Observational

Biobank, Institution

Sampled

Van Andel Institute

Biobank, Involvement

Funded

Center of Excellence, Institution

Colorado Children's

Center of Excellence, Involvement

Funded

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Genetic data

Imaging data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Both

Platform, Registry

Matrix

Natural History Study

Yes, we have a natural history study that we created

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Electronic health records/electronic medical records

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

Matrix

RARE-X

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We are working on obtaining an ICD-10 code

We are working on obtaining an ICD-11 code

Diagnostic Guidelines

Yes, we have guidance available on our website

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN and willing to share policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None