**Statement of Work for Dr. Erhan Firatli**

1.  [Objectives]{.underline}

> The contractor will work with Dr. Thomas Hart and other members of the
> Human and Craniofacial Genetics Section. The contractor will perform
> recruitment and clinical assessment of individuals from families
> segregating Papillon Lefèvre syndrome (PLS). Dr. Firatli's work will
> focus on identification of families segregating Papillon Lefèvre
> syndrome, diagnosing which family members are and which are not
> affected by PLS, obtaining informed consent from individuals to
> participate in studies to identify the underlying genetic basis of PLS
> in their families and understanding the mechanism of this disease. The
> areas of the investigation include ascertainment of affected PLS
> probands and their family members, determination of who does and who
> does not have the disease, obtaining appropriate samples for DNA
> isolation including peripheral blood, buccal swabs or oral rinses.
> Isolated DNA will be used to perform mutational analysis of the
> cathepsin C gene through DNA sequencing. These studies are aimed at
> characterization of the underlying gene defect in each family and in
> determining how the mutations act to cause disease.

2.  [Approach]{.underline}

> The contractor will be involved in implementing clinical ascertainment
> of individuals with Papillon Lefèvre syndrome. The contractor will be
> involved in ascertaining family members of individuals with PLS, and
> diagnosing affected status. The Contractor will be involved with
> tissue procurement and treatment of affected individuals in his
> clinic. The contractor will be responsible for preparation of samples
> and shipment to the Human and Craniofacial Genetics laboratory for
> analysis. The contractor will work with personnel from the Human and
> Craniofacial Genetics section in preparation of reports including
> scientific manuscript describing findings of molecular genetic
> studies.

3.  [Methods]{.underline}

> The services will be performed as follows:

a)  The contractor will participate in ongoing research related to
    identification of the genetic basis of Papillon Lefèvre syndrome and
    characterization of the functional defect that causes the disease.
    Specifically the contractor will ascertain individuals affected by
    Papillon Lefèvre syndrome, including clinical diagnosis, collection
    of specimens and preparation of specimens for DNA extraction, cell
    culture and immunohistochemistry.

b)  The contractor must have expertise in clinical diagnosis of various
    forms of Papillon Lefèvre syndrome and the ability to distinguish
    the condition from sporadic phenocopies of the condition. The
    contractor must have a background in genetics, and have the ability
    to record accurate pedigrees.

c)  The contractor will have expertise to inform the affected
    individuals of the appropriate treatment of PLS associated
    periodontitis and provide periodontal treatment if the patient
    elects.

d)  The contractor will have expertise to perform standard biopsies of
    gingival tissues.

e)  The contractor will have expertise to perform standard radiography
    of PLS affected sites.

f)  The contractor will maintain clear and accurate records relating to
    clinical information as well as tracking samples.

g)  The contractor should have excellent oral communication skills and
    be able to participate in writing scientific reports as well as
    clinical records.

[Personnel, evaluation and schedule]{.underline}

> [A. Personnel]{.underline}
>
> The contractor must have a working knowledge of general dentistry and
> expertise in Periodontology. The contractor must have a working
> knowledge of genetics including modes of transmission of Mendelian
> diseases. The contractor must have expertise in the various forms of
> Papillon Lefèvre syndrome. The contractor will be skilled in sample
> preparation for DNA isolation and for transport of tissue samples.
> Personnel provided under the contract will comply with the rules and
> policies of the NIDCR and its staff.
>
> [B. Evaluation]{.underline}
>
> The contractor is expected to work in an independent self-motivated
> fashion. The contractor is expected to work closely with the Section
> Chief and other members of the laboratory and will be evaluated at
> least once a week by discussing a weekly progress report with the
> section chief. If the contractor is considered to be substandard in
> the judgment of the section chief, the contractor will initially
> receive notice of the problem from the section chief and will be
> required to take corrective measures and to demonstrate improved
> performance.
>
> [C. Schedule]{.underline}
>
> The contractor will perform duties related to the study for a minimum
> of 15 hours a week. The contractor will have flexibility to determine
> the days the work is performed, as this will be dictated in large
> measure by subject availability and study subjects availability.
> Failure to schedule and perform the necessary duties shall be
> considered default of the contract.
>
> [D. Reporting Requirements]{.underline}
>
> The contractor shall provide professional services for the Human and
> Craniofacial Genetics Section, NIDCR during the period of September
> 25, 2006 to September 24, 2007. The contractor will be paid a total of
> \$15,000 for this 12 month period.
>
> **Justification**
>
> Attached is a request for \$15,000 to provide per Diem and travel for
> the services of Dr. Erhan Firatli. Under this contract, Dr. Firatli
> will provide clinical research services to the Human and Craniofacial
> Genetics Section, NIDCR. Her contract will run from September 25, 2006
> to September 24, 2007. The work requires specialized clinical skills
> and basic research skills for sample preparation. Dr. Firatli is a
> dentist with specialized training in the field of Periodontology. He
> is also experienced in understanding of human genetics related to PLS,
> and was part of the initial team that first identified the underlying
> gene defect for the condition. Dr. Firatli is experienced in the area
> of Papillon Lefèvre syndrome, and has published scientific manuscripts
> related to this topic. The procedures described need technical skill
> and expertise in the area of normal and abnormal periodontal
> development. He is also proficient with the methods related to
> establishing the needed database and recording the appropriate
> information.
>
> Additionally, Dr. Firatli has the expertise and self motivation to
> successfully perform the project. He is familiar with all goals of the
> proposal, and understands when to support different aspects of the
> project to ensure successful completion. His specific expertise in the
> area of Papillon Lefèvre syndrome research makes him an ideal
> candidate for this work.
>
> **[Task Description:]{.underline}**
>
> Firm will issue 12 checks on the following payment days for the
> following amounts:

9/25/2006 -- 10/24/2006 - \$1,250.00

> 10/25/2006 -- 11/24/2006 - \$1,250.00
>
> 11/25/2006 -- 12/24/2006 - \$1,250.00
>
> 12/25/2006 -- 1/24/2007 - \$1,250.00
>
> 1/25/2007 -- 2/24/2007 - \$1,250.00
>
> 2/25/2007 -- 3/24/2007 - \$1,250.00
>
> 3/25/2007 -- 4/24/2007 - \$1,250.00
>
> 4/25/2007 -- 5/24/2007 - \$1,250.00
>
> 5/25/2007 -- 6/24/2007 - \$1,250.00
>
> 6/25/2007 -- 7/24/2007 - \$1,250.00
>
> 7/25/2007 -- 8/24/2007 - \$1,250.00
>
> 8/25/2007 -- 9/24/2007 - \$1,250.00
>
> Checks will be issued to Dr. Erhan Firatli. Payment to Dr. Firatli for
> her clinical research services to the Human and Craniofacial Genetics
> Section, (HCGS)/ NIDCR. It is estimated that Dr. Firatli will provide
> specialized sample preparation to HCGS/NIDCR beginning on 9/25/2006. A
> total of \$15,000.00 shall be paid in 12 payments. The checks should
> be sent via express mail to the NIDCR, to the attention of Renata
> Baginski at the following address.
>
> Mailing Address

Renata Baginski

National Institutes of Health (NIH)

30 Convent Drive, Bldg. 30/508

Bethesda, MD 20892-4310