Pachyonychia Congenita Fund

General Organizational Information

Organization Name:

Organization Acronym:

PC Project

Year Established:

2003

Brochure:

MedProf.Mar2010.pdf

Type of organization:

Condition(s)-specific International

Mission Statement:

Our mission is to develop and deliver treatments for Pachyonychia Congenita patients worldwide. Activities include research, grants, educational outreach and materials, scientific and patient support meetings, support for patients, families, medical professionals and researchers all focused on Pachyonychia Congenita and related skin disorders.

Status of organization:

Incorporated non-profit

Professional/Medical Board?:

Yes

501(c)3 Status?:

Yes

Paid staff?:

Yes

Board of Directors?:

Yes

Serves the following conditions

Diseases:

Pachyonychia Congenita

Organizational Contact Information

First Name:

Mary

Middle Initial:

Last Name:

Schwartz

Address:

2386 East Heritage Way Suite B

Salt Lake City, 84109

United States

See map: Google Maps

Phone:

+1 1 801 401 6300

Fax:

+1 877 628 7399

Toll Free Number:

+1 877 628 7300

Email:

Mary.Schwartz@pachyonychia.org

Website Address:

http://www.pachyonychia.org

Resources and Services Provided

Languages spoken:

Chinese

English

German

Finnish

French

Italian

Japanese

Portuguese

Spanish

Swedish

Printed materials available in:

Chinese

English

German

French

Portuguese

Spanish

Information provided for:

Affected individuals

Families of affected individuals

Care providers

Parents

Fathers

Mothers

Siblings

Grandparents

Health care professionals

Researchers

The public

Teachers

Students

Media

Range of services include:

Referrals to local chapter or group

Referrals to research studies

Referrals to matching individuals/families

Peer Support

Professional counseling

Peer-to-peer counseling

Medical referrals

Clinical or treatment centers

Genetic testing

Genetic counseling

Genetic information

Referrals for non-medical services

Advocacy

Speakers

Pen pal program

Telephone helpline

E-mail list

Chat room

Educational materials include:

Fact sheet(s)

Pamphlet(s)

Booklet(s)

Website

Newsletter

Journal articles on condition

Bibliography

Slides

Research updates

Video(s)/Movie(s)

CD Roms

Conferences/workshops for:

Affected individuals and/or families

Researchers

Professionals

Financial assistance for:

Scholarships

Cohort Development:

Registry of affected individuals

Blood and Tissue Banking

Number of affected individuals registered:

916

Number of individuals for whom you have banked a DNA sample:

254

Number of individuals for whom you have banked a tissue sample:

Blood and tissue bank name :

University of Dundee

Blood and tissue bank location :

University of Dundee, Human Genetics Department

College of Life Sciences and Medicine Dundee, Scotland

United Kingdom

See map: Google Maps

Disease Characterization:

Epidemiological studies

Phenotype/genotype correlation studies

Organization has access to patient medical records

Research Management:

Linking researchers and families

Participant recruitment

Initiating and conducting research

Awarding research grants

Organization has intellectual property (IP)

Completed gene expression profiles

Providing information about clinical trials

Major research collaborators :

W. H. Irwin McLean, Frances J.D. Smith, Roger L. Kaspar, Sancy Leachman, Peter Hull, Leonard Milstone, Birgit Lane, C. David Hansen

Major research interests of the organization:

keratin disorders, siRNA

Current projects:

delivery of nucleic acids, retinoid and statin studies

Current Request for Proposals:

open

Number of grants awarded in last calendar year :

Amount of researching funding awarded in last year :

$175000

Amount of funding allocated to drug development:

650000

Phase 1 trials: