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This database includes mutations and variants even when they are repeated. However, they must be present in unrelated families. The aim is to provide information to physicians as to whether or not a mutation found in a patient has been seen before in other affected individuals. The database is also used by researchers. Mutations and variants listed come from the literature, from direct submission by laboratories, and from direct submission by affected families. Pathogenicity of many of the mutations is confirmed by monolysocardiolipin/cardiolipin assay; mRNA study has characterized some of the splicing variants; large evolutionary alignments provide information about amino acid conservation; family information regarding de novo mutations is included; the functional effects of human TAZ mutations modeled in yeast are included. There are links to the PubMed abstracts of references.
The Barth Syndrome Foundation recently announced awardees from its 2017 grant cycle. Miriam Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences at Wayne State University and a resident of Ann Arbor, Michigan, received a one-year, $50,000 grant for the project, "Cardiolipin activates pyruvate dehydrogenase (PDH) - a potential new target for treatment of Barth syndrome."
...Greenberg and her team will test the hypothesis that cardiolipin (CL) deficiency results in a deviation of the metabolic pathway for energy production, specifically due to decreased activity of the enzyme pyruvate dehydrogenase (PDH).
"We aim to reveal a new direction for BTHS treatment based on activation of PDH and/or supplementation of deficient metabolites," said Greenberg. "The outcome of our study may reveal a new direction for Barth syndrome treatment based on activation of PDH and/or supplementation of deficient metabolites."
With the completion of the 2017 Barth Syndrome Foundation (BSF) Research Grant Cycle, 16 annual award cycles have committed a total of US $4.5 million to this important effort through 104 research grants to 60 principal investigators around the world. As with all BSF grant cycles, the projects from the 2017 cycle that were accepted by BSF were actually awarded the following year, thus being included in 2018 fiscal year expenses. BSF, with the advice of its international Scientific and Medical Advisory Board, and with support from international affiliates, awarded four research projects. BSF is very happy to be able to support these grant recipients.
Steve McCurdy, the Co-Founder and Chairman of the Barth Syndrome Foundation, speaks with Shannon Hogan and explains what Barth Syndrome is.
A young Genesee County teen born with a rare genetic condition will be a special guest at an upcoming NHL game. Devin, a 13-year-old boy from Burton, was born with Barth syndrome. The genetic condition affects about 200 people worldwide. The disease causes an enlarged and weakened heart, muscle weakness, recurrent infections, and small stature, and frequently results in fatal infection or heart failure by age three. Devin underwent a successful heart transplant at 9-weeks-old.
The New York Islanders will host the Detroit Red Wings on Friday, Feb. 9 at their second "Barth Night" hosted by the New York Islanders, where hockey fans will learn about Barth syndrome and how they can help. Devin will get to ride the Zamboni and drop the ceremonial puck. He'll also be featured in a video shown on the scoreboard during the game.
"Devin absolutely LOVES hockey," said Nicole, Devin's mother. "He can't play due to his Barth syndrome, but he loves to watch and talk about hockey. This game is all he's talked about for weeks."
Devin's family and friends are hosting a watch party at Sharky's Sports Bar in Burton beginning at 6:30 p.m. Tickets are just $10 and include pizza and pop. Proceeds will go to the Barth Syndrome Foundation.
REGISTER NOW for BSF’s 9th International Scientific, Medical & Family Conference, "Power Up!," scheduled for July 16-21, 2018, in Clearwater Beach, Florida. This will again be the world's largest gathering of Barth syndrome researchers, clinicians and families.
ALL attendees must register with BSF.
This conference brings affected families, research scientists, and clinicians together in one place at one time for a dual track meeting. The Barth Syndrome Foundation and our affiliates in Canada, France, Italy, and the United Kingdom firmly believe that while each of these groups can make some progress in their individual efforts, together, we are so much more powerful.
Don't miss out on this important event. Follow the link to REGISTER NOW! The link to make hotel reservations is also on the page. Book early to secure your sleeping room!
We look forward to seeing everyone in July!
The Barth Syndrome Foundation is soliciting speaker abstracts for the Scientific and Medical Sessions of the 9th International Scientific, Medical & Family Conference on Barth Syndrome to be held on July 16-21, 2018 at the Hilton Clearwater Beach Resort, Clearwater Beach, Florida. The SciMed sessions will take place on Thursday and Friday, July 19th and 20th, and presentations should cover clinical and scientific areas directly related to Barth syndrome. Invited speakers will have ~ 30 minutes to present. The deadline for Speaker Abstract submission is March 1, 2018.
The Barth Syndrome Foundation 2018 Scientific and Medical Conference Organizing Committee (COC), comprised of members of the Barth Syndrome Foundation International Scientific & Medical Advisory Board, invites the submission of abstracts for poster presentations related to the scientific and/or clinical aspects of Barth syndrome. The deadline for Poster Abstract submission is May 15, 2018.
The Barth Syndrome Foundation offers a limited number of travel scholarships for qualifying physicians, clinical residents/ fellows/students, nurses, and other allied health professionals to help defray the cost of attending the 2018 Conference. This program is designed to encourage medical practitioners to increase their knowledge about and improve their care of Barth syndrome individuals. The deadline for Scholarship Application submission is May 15, 2018.
The Barth Syndrome Journal Volume 17 Issue 2 is now available online.
Clinical Aspects (Hilary Vernon, MD), Cardiolipin (Michael Schlame, MD), and Molecular Physiology of Barth Syndrome (William T. Pu, PhD)
It is estimated that fewer than 10 patients are diagnosed with Barth Syndrome (BS) in the US every year. Abnormalities of CL have been linked to many common diseases, however BS remains the only mendelian disorder. This X-linked disorder is caused by pathogenic variants among the tafazzin (TAZ) gene. Among various clinically significant findings from three research labs focused on BS, Michael Schlame’s lab found the drug Resveratrol (RSV) able to stabilize cardiolipin (CL) in BS patients. RSV has also been known to improve fatty acid oxidation and respiratory chain defects. Research presented by William Pu further suggested that excess ROS generated in BS could describe calcium abnormalities that relate to cardiomyopathy/arrhythmias frequently observed in patients. Notable research presented by Hilary Vernon included vast biochemical analysis, such as how CL levels serves as a significant indicator of phenotype severity. The combined ideas represent a comprehensive review in which BS may present, further offering various promising methods of treatment and diagnosis. An overarching idea found from BS research explains how chemical equilibrium ultimately regulates what inside a cell is made. Specific examples include CL levels, phospholipid stability, etc. Presenter Michael Schlame elaborated on this finding, concluding his research efforts reject the theory behind enzyme supplementation therapy. Notable explanation for this theory followed how when fundamental equilibrium within relative cellular processes is not ideal, an unstable structure will be unable to respond appropriately to supplementation.
By Angela Corcelli, PhD, Professor of Physiology, Department of Basic Medical Sciences, Neurosciences and Sensory Organs, University of Bari Aldo Moro, Bari, Italy
Differently from the previous meetings, this time I shared the responsibility of the meeting organization not only with Michael Schlame (NY) and Simona Lobasso (Bari), but also with Peter Buetikofer professor in Bern. Peter is strongly interested in cardiolipin and its role in Trypanosoma brucei, the human parasite responsible for African trypanosomes, or sleeping sickness. The parasite is carried by the tsetse fly in sub-Saharan Africa.
About the location of this edition, as said before the choice of Martina Franca was made by taking in consideration the beauty of the town and of the country around and also in the light of passion of my friend Michael for the donkeys of Martina Franca, kind of mascot. I personally found the town very charming.
In this meeting, various aspects of physiopathology of different tissues and organs have been considered and examined through a kind of filter that allows to highlight the role of lipids in cell physiology.
Stealth BioTherapeutics (Stealth), a clinical-stage biopharmaceutical company developing therapeutics to treat mitochondrial dysfunction, today announced that the U.S. Food and Drug Administration's (FDA) Office of Orphan Products Development (OOPD) has granted Orphan Drug Designation to Stealth's investigational drug candidate, elamipretide, for the treatment of patients with primary mitochondrial myopathy (PMM).