Call for collaboration

Help your colleagues! We are applying for colleagues who want to collaborate with others.

We are looking to obtain Kveim Reagent for research purposes.

Anyone contributing Kveim would be included in any publication that are the result of the investigations. We are prepared to sign material transfer agreements.

Please contact Milton Rossman at e-mail: rossmanm@mail.med.upenn.edu

Information about Kveim: http://www.ncbi.nlm.nih.gov/pubmed/3310307 (PDF)

rossman
Milton Rossman, M.D. (CV)
Professor of Medicine
Perelman School of Medicine
University of Pennsylvania Health System
215-573-9890
FAX 215-614-0869

More information, please visit:

http://www.pennmedicine.org/providers/profile/milton-rossman

 

Call for cases with Pulmonary Alveolar Microlithiasis and collaboration with colleagues

Project:

Characterisation and role of mutations in the SLC34A2 gene/NaPi-IIb in Pulmonary Alveolar Microlithiasis

Background

Mutations in the SLC34A2 gene, which encodes a sodium phosphate co-transporter (NaPi-IIb), cause defect cell-uptake of phosphate, and leads to formation of calcium-phosphate concretions in the lungs, as seen in Pulmonary alveolar microlithiasis (PAM). PAM is an autosomal recessive disease with less than 600 patients reported worldwide. Although the clinical course varies, the disease is usually slowly progressive. There is no known effective treatment for PAM, with the exception of lung transplantation.

The aims of the project

We aim to investigate the association between new mutations in the SLC34A2 gene in PAM patients and the function and localisation of the mutated transporter. The expression of SLC34A2 in BAL-fluid (alveolar type II cells) and in extra-pulmonary tissue (skin) will be investigated. In addition, we aim to assess the systemic phosphate homeostasis in patients with mutations. Furthermore, we aim to compare the results to the patient’s relatives (with only one mutated SLC34A2 allele) with unrelated healthy control subjects.

We are seeking patients and collaborating partners to the project

As part of the project, we are setting up the analysis at our Genetic Department in Aarhus. We would be more than happy to offer the genetic analyses to you as part of research collaboration. We will do this for free; in exchange we will reserve the right to use the results in future scientific publications with the aim of improving the treatment of the patients. The genetic testing of your patient will just require a blood sample.

We would be very delighted if you would be interested in collaboration with us. Please, contact MD, PhD student Åsa Lina M. Jönsson for further details and practical information.

Contact information

asalina

Åsa Lina M. Jönsson, MD, PhD student (CV)
Department of Biomedicine, Aarhus University
Bartholins Alle´ 6, 3rd Floor, 8000 Aarhus C, Denmark
email: jonsson@biomed.au.dk
Elisabeth Bendstrup_edited

Elisabeth Bendstrup_edited

Elisabeth Bendstrup. MD, PhD, Associate professor (CV),
Department of Respiratory Diseases and Allergology,
Aarhus University Hospital, Aarhus, Denmark
email: kabend@rm.dk

A case with pulmonary alveolar microlithiasis

 

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