- It includes an easy-to-use family tree builder application that helps in tracking potential family members who may also have a Fabry-related mutation.
On this year's World Rare Diseases Day, February 28, a new disease awareness website for the rare genetic disease Fabry is being launched in Greece. The www.fabryfamilytree.gr platform includes information about the disease, its symptoms, its diagnosis and the way it can be passed down the generations of a family. It also includes a very easy-to-use family tree builder application that helps visitors create their family tree and automatically highlights family members who may have a mutation associated with Fabry disease. The data inserted in the family tree builder is completely confidential, accessible only by the individual creating the tree.
The website was created by the global pharmaceutical company Amicus Therapeutics, while for our country it is supported by the Greek pharmaceutical company GENESIS Pharma which is the strategic partner of Amicus in Greece.
What is Fabry?
Fabry disease affects both men and women and is caused by a variety of mutations in a gene called GLA in the X chromosome which provides the instructions to make an enzyme (a-galactosidase A). Normally this enzyme helps break down certain sugary-fatty substances (glycosphingolipids) in the cells of our body, but the mutations prevent it from performing its normal function. This leads to a build-up of those substances causing the symptoms of Fabry.[1,3]
Fabry disease can affect most parts of the body: the heart, the nervous and gastrointestinal system, the kidneys, the eyes, the skin and can cause, among others, pain, kidney failure, heart disease and stroke.[1,5,8,9] The type, the manifestation and severity of symptoms, as well as the age they develop, varies between individuals – even among family members. [3,10-12] However, Fabry is a progressive disease, thus it can get worse over time, potentially resulting in serious or life-threatening complications, even though this won’t be the case for everybody.
The importance of the Fabry family tree
Fabry is a genetic condition that can be passed down the generations of a family.[1] It is often difficult to diagnose, with an average delay of 15 years. This is because it is a rare disease, but also because its symptoms vary and are similar to symptoms caused by more common diseases.[1,2]
In addition, it is estimated that there are individuals within a family who are unaware that they have one of the many mutations associated with Fabry disease, either because they have not yet developed symptoms,[3] or because they have some symptoms without knowing the cause. It is estimated that, on average, for each person diagnosed with Fabry disease, at least 5 other family members can be diagnosed with this condition.[4] Therefore, identifying relatives who may have a mutation of the disease, along with early diagnosis and disease management can lead to a healthier future.[1,5-7]
About GENESIS Pharma
GENESIS Pharma was one of the first pharmaceutical companies in Europe to specialize in the promotion, sales and distribution of biopharmaceutical products and is currently the largest by turnover among Greek companies focusing on innovative medicines.Through long-standing strategic partnerships with some of the leading global pharmaceutical companies committed to cutting-edge R&D, GENESIS Pharma has created a strong portfolio of innovative and high therapeutic value pharmaceutical products for more than 30 severe and rare diseases.
It is acknowledged as one of the most specialized companies in multiple sclerosis in Greece, it represents pioneering treatments for rare genetic diseases, biosimilar products of advanced biologics for rheumatological and dermatological chronic inflammatory diseases, as well as a range of innovative medicines for rare hematological malignancies. Its portfolio also includes products in the therapeutic areas of oncology, nephrology and gastroenterology. GENESIS Pharma is one of the most awarded companies in the country for its commitment to sustainable development and good working environment, with a yearly contribution to the Greek economy and society that exceeds 30% of its annual turnover.
Contact:
Natalia Karahaliou, Communications & Patient Advocacy Manager, GENESIS Pharma, +30 210 8771605, nkarahaliou@genesispharma.com
REFERENCES
[1] Germain DP. Orphanet J Rare Dis. 2010;5:30
[2] Hilz MJ et al. Dig Liver Dis. 2018:50(5):429-437
[3] Laney DA, et al. J Genet Couns. 2013;22(5):555-564
[4] Laney DA & Fernhoff PM. J Genet Counsel. 2008:17:79-83
[5] Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427
[6] Germain DP et al. Clin Genet. 2019;96(2):107-117
[7] Mehta A & Hughes DA. Fabry disease. GeneReviews®. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1292/ [Last accessed February 2021]
[8] Desnick RJ et al. Ann Intern Med. 2003;138(4):338-346
[9] Yousef Z et al. Eur Heart J. 2013;34(11):802-808
[10] Cammarata G, et al. Biomed Res Int. 2015;504784
[11] Laney DA. Mol Genet Metab. 2019:126(2):S90-91
[12] Yamamoto S et al. Intern Med. 2019;58(4):603-607