April 2013

Table of Contents

Letter from the Editors

Letter from the Editors

M. Ian Phillips, PhD, DSc, FAHA and Tim Coté, MD, MPH

Welcome to the first issue of the Journal of Rare Disorders.

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Rare and Orphan Diseases Challenges: Clinical Development and Clinical Practice

Rare and Orphan Diseases Challenges: Clinical Development and Clinical Practice

Cara Cassino, MD; May Orfali, MD; and Robert J. Charnigo; Deborah L. Marsden, MD

Although rare diseases individually affect small populations, the 7000 identified rare diseases collectively affect more than 50 million people in the United States and Europe combined.1 Most rare diseases have a genetic basis, 85% are serious or life threatening, and >50% affect children. Approved treatments are available for <5% of rare diseases, and for many, the outcome is fatal.2 Drug developers and practitioners share challenges in delivering effective treatments to patients with rare diseases.

 

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Skin Findings Reveal Deeper Issues: A Case of Birt Hogg Dubé Syndrome

Skin Findings Reveal Deeper Issues: A Case of Birt Hogg Dubé Syndrome 

Jodi D.Hoffman, MD, Neeta Vora, MD, Gary Strauss, MD, Alireza Sepehr, MD, and Ben Solky, MD

Birt-Hogg-Dubé syndrome is a rare, multi-system genetic disorder. The diagnosis consists of a triad of findings; dermatologic, pulmonary, and renal. This article aims to increase awareness of this rare syndrome and the need to consider Birt-Hogg-Dubé syndrome in patients with fibrofolliculomas or tricodiscomas, pneumothorax or lung cysts, and renal tumors. Early diagnosis allows for management and screening of the associated lung and renal findings, which benefits patients with this autosomal dominant condition as well as their families.

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Prenatal Findings in Cases of Familial and Sporadic 22q11.2 Deletion Syndrome

Prenatal Findings in Cases of Familial and Sporadic 22q11.2 Deletion Syndrome

Atena Asiaii, Jodi Hoffman, Sally Harris, Laurie Demmer, Neeta Vora

To date, published information is lacking regarding the prenatal natural history of DiGeorge syndrome/velocardiofacial syndrome. Caused by the deletion of chromosome 22q11.2 in most cases, this syndrome is increasingly detected prenatally with the use of microarrays.

The authors hypothesized that current prenatal screening methods (such as nuchal translucency, maternal serum markers, and ultrasonography) may be useful as prenatal indicators for the early diagnosis of the 22q11.2 deletion syndrome (DS). The goal of this study was to identify characteristic findings, including sonographic abnormalities, in 22q11.2 DS to improve prenatal detection

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Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

Amy L. Akers, PhD; Karen L. Ball, BS; Marianne Clancy, BS; Anne M. Comi, MD; Marie E. Faughnan, MD; Rashmi Gopal-Srivastava, PhD; Thomas P. Jacobs, PhD; Helen Kim, PhD; Jeffrey Krischer, PhD;

Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurologic morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in “research silos” with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, interinstitutional group of investigators, 1 of 17 consortia in the Office of Rare Diseases Research of the Rare Diseases Clinical Research Network (RDCRN).

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The Cochrane Report-Enzyme Replacement Therapy For Anderson-Fabry Disease

The Cochrane Report

Regina P. El Dib, PhD; Paulo Nascimento, MD, PhD; and Gregory M. Pastores, MD

This review highlights the need for continued research on the use of enzyme replacement therapy for

Anderson-Fabry disease.

 

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