Barth Syndrome: On Track Toward a Cure

Scientific and medical progress has been remarkable since the founding of the Barth Syndrome Foundation in late 2000 and the start of the International Barth Syndrome Conferences in 2002.  However, there is still much more that needs to be learned about this underdiagnosed X-linked metabolic disorder with symptoms such as cardiomyopathy, neutropenia, growth delay and excessive fatigue.

On July 24-25, 2008, at our Fourth International Scientific, Medical and Family Barth Syndrome Conference, the world’s leading researchers and clinicians will give presentations on many topics ranging from advances in understanding the underlying biochemistry, to the latest findings utilizing various model systems, to improving clinical aspects of this disorder.

The Scientific and Medical portion of this Conference (which is held separately from the Family sessions) will bring together basic scientists, clinical researchers, treating physicians and health professionals to focus on the syndrome through a series of carefully organized sessions.  There are numerous issues in all of these areas that continue to perplex even the most seasoned investigators, so this will be a very stimulating meeting that looks toward the future.  In addition to these formal presentations, there will be a Poster Session (for more detail see “Call for Abstracts” at the end of this post.

Clinic Sessions

Before this formal meeting begins several days of “clinics” will be held.  During these clinics, families will provide medical data and biological specimens to be included in the IRB-approved Barth Syndrome Medical Database and Biorepository used for research, thus playing a pivotal role in furthering what is known about Barth syndrome.  In addition, some approved researchers who are doing work on Barth syndrome will be permitted to gather specific clinical data needed for their research.  This is a wonderful opportunity to move the science of Barth syndrome forward, since BSF’s Conference is the largest gathering of patients with Barth syndrome in the world. The Clinic days also afford some professionals the chance to see many Barth patients in one venue, which is a rare and extremely helpful experience.  Knowledge about various aspects of this complicated, multi-system disorder can be advanced and thoughts about improved treatment approaches can be formulated by examining multiple patients.  We are all in this together, and we can and do learn a great deal from each other. 

Please register with the Barth Syndrome Foundation for this Conference (and have access to reduced hotel room rates) by visiting our website at http://www.barthsyndrome.org/english/View.asp?x=1524. 

Call for Abstracts

Topic 1
“What is the biochemical role of the tafazzin gene?”
Ronald J. A. Wanders, PhD — Chair
Professor of Enzymology and Inherited Metabolic Diseases, University of Amsterdam, Amsterdam, The Netherlands; Scientific and Medical Advisory Board, Barth Syndrome Foundation, Inc.  Professor Wanders heads the renowned Laboratory for Genetic Metabolic Diseases at the AMC in Amsterdam. Several scientists in this lab have conducted interesting projects concerning the underlying biochemical causes of Barth syndrome and have done other work that is relevant to a fuller understanding of this disorder. 

This session will focus on:

• Mitochondrial localization of tafazzin
• Mitochondrial protein import dysfunction
• Protein-protein interactions with tafazzin
• Cell culture modeling of tafazzin dysfunction
• Oxygen-consumption and ROS production in tafazzin-defective cell lines

Topic 2
“What roles do cardiolipin and other lipids play in Barth syndrome?”
Grant M. Hatch, PhD — Chair
Director of the Lipid Lipoprotein and Atherosclerosis Research Group, University of Manitoba; Professor, Department of Pharmacology and Therapeutics; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada; Scientific and Medical Advisory Board, Barth Syndrome Foundation, Inc. 

Dr. Hatch’s research interests focus on metabolism and pharmacological modulation of phospholipids (including cardiolipin) in the mammalian heart and cells in culture. He has published numerous papers on these topics. 

This session will focus on:

• Biophysical role of cardiolipin
• Cardiolipin and apoptosis
• Mitochondrial structure in Barth syndrome cell lines
• Tafazzin and phospholipid remodeling
• Cholesterol metabolism in Barth syndrome cell lines

Topic 3
“What are the phenotypic consequences of tafazzin dysfunction?”
Richard I. Kelley, MD, PhD — Chair
Professor of Pediatrics, Johns Hopkins University School of Medicine; Director, Division of Metabolism, Kennedy Krieger Institute, Baltimore, MD; Staff Physician, The Kennedy Krieger Institute; Director, Intermediary Metabolism and Clinical Mass Spectrometry Laboratory; Chair, Barth Syndrome Foundation Scientific and Medical Advisory Board

Dr. Kelley is board certified in Pediatrics and Medical Genetics and specializes in the diagnosis and treatment of inborn errors of metabolism.  His research focuses on the determination of the biochemical basis of both known and novel genetic disorders and on the treatment of selected diseases, including Barth syndrome, Smith-Lemli-Opitz syndrome, and disorders of mitochondrial metabolism.  Dr. Kelley also is a co-founder of, and consulting geneticist for, the Clinic for Special Children, a charitable medical facility for the diagnosis and treatment of genetic disorders among the Amish and Mennonite populations of Lancaster County, Pennsylvania.

This session will focus on:

• Exon 5 mutations of the tafazzin gene
• Suppressor analysis of the tafazzin deletion strain of Drosophila
• Role of PG in cardiolipin metabolism
• SHHF rats and tafazzin upregulation
• CL bloodspot assay for Barth syndrome diagnosis
• Tafazzin mRNA dysfunctions and Barth syndrome
• Role of cardiolipin dysfunction in Barth syndrome

Topic 4
“How many Barth syndrome patients are there and what is being done for treatment?”
Barry J. Byrne, MD, PhD — Chair
Cardiology Director, Department of Pediatrics, Shands  Children’s Hospital, University School of Medicine, Gainesville, FL; Professor & Associate Chair of Pediatrics, Molecular Genetics & Microbiology; Director, Powell Gene Therapy Center, University of Florida, Gainesville, FL; Scientific and Medical Advisory Board, Barth Syndrome Foundation, Inc.

Dr. Byrne is a pediatric cardiologist in the Departments of Pediatrics and Molecular Genetics and Microbiology at the University of Florida, as well as the Director of the Powell Gene Therapy Center.  His laboratory is engaged in a comprehensive research effort in molecular cardiology with emphasis on the diagnosis and treatment of heart failure in infants and children.  The program is aimed at genetic therapy for treatment of inherited and acquired cardiovascular disease.  As a model system, they are focusing on a fatal form of heart failure due to glycogen storage disease.  These programs are being supported by the American Heart Association, Muscular Dystrophy Association, and the National Institutes of Health (National Heart Lung and Blood Institute; National Institute of Diabetes and Digestive and Kidney Diseases; and National Center for Research Resources).

This session will focus on:

• Screening of the pediatric DCM registry for tafazzin
• Fetal loss and Barth syndrome
• Screening for Barth syndrome
• Heart transplants in Barth syndrome patients
• Psychological aspects of Barth syndrome
• Longitudinal studies of Barth syndrome patients

Please register with the Barth Syndrome Foundation for this Conference (and have access to reduced hotel room rates) by visiting our website at http://barthsyndrome.org/english/View.asp?x=1524.

Please bookmark www.barthsyndrome.org for up-to-date information.