{"id":3334,"date":"2026-06-29T12:21:09","date_gmt":"2026-06-29T10:21:09","guid":{"rendered":"https:\/\/genomikadlapolski.pl\/?p=3334"},"modified":"2026-07-06T13:37:57","modified_gmt":"2026-07-06T11:37:57","slug":"fundacja-platynowa-druzyna-dolacza-do-wspolpracy-z-g4pl-w-miesiacu-w-ktorym-obchodzimy-swiatowy-dzien-choroby-battena","status":"publish","type":"post","link":"https:\/\/genomikadlapolski.pl\/en\/fundacja-platynowa-druzyna-dolacza-do-wspolpracy-z-g4pl-w-miesiacu-w-ktorym-obchodzimy-swiatowy-dzien-choroby-battena\/","title":{"rendered":"The Platinum Team Foundation is joining forces with G4PL in the month of World Batten \nDisease Day"},"content":{"rendered":"

29 czerwca 2026<\/strong> \u2013 The collaboration between the Institute of Bioorganic Chemistry of the Polish \nAcademy of Sciences (IBCH PAS) and the Platinum Team Foundation has now been \nformalised. The signing of a cooperation agreement in connection with the \u2018G4PL \u2013 \nGenomics for Poland\u2019 project, led by IBCH PAS, marks the first step towards joint efforts to \nresearch rare genetic diseases and raise awareness of them.<\/p>\n\n\n\n

The Platinum Team Foundation brings together and supports the families of patients \nsuffering from rare diseases, with a particular focus on Batten disease. A key element of the \nFoundation\u2019s mission is to raise public awareness of rare diseases. The importance of this \neducation is highlighted each year by World Batten Disease Day, observed on 9 June. The \nFoundation\u2019s activities involve not only supporting families, but also helping the wider \ncommunity to understand the challenges faced by patients and their loved ones.<\/p>\n\n\n\n

The collaboration between the two institutions is based on combining social initiatives with \nresearch and development activities. The G4PL \u2013 Genomics for Poland project aims to \ncompile a dataset comprising the whole-genome sequencing results of 6,000\u20137,000 people, \nincluding patients with rare diseases.<\/p>\n\n\n\n

For patients with Batten disease and other rare genetic conditions, obtaining a diagnosis is \noften a lengthy and arduous process, referred to as a \u2018diagnostic odyssey\u2019. Thanks to the \ninfrastructure being developed as part of the G4PL project, access to whole-genome data \nand tools for analysing it will make it possible to identify the genetic basis of diseases more \nquickly, which is a prerequisite for implementing appropriate care and treatment.<\/p>\n\n\n\n

\u201cI first came into contact with the Platinum Team Foundation several years ago, whilst \nworking on the first genomics project at the Institute of Bioorganic Chemistry of the Polish \nAcademy of Sciences (IBCH)t, the so-called Genomic Map of Poland. At that time, our aim \nwas to compile a reference collection of genomes from the inhabitants of Poland, including \nrepresentatives of regional and ethnic minorities. Our first meeting took place in Kashubia, \nwhilst collecting samples from the Kashubian minority, to which the Foundation\u2019s Chair, \nMa\u0142gorzata Skweres-Kuchta, belongs. It was then that the suggestion was made to include \nrare diseases in future research. Today, that future is becoming a reality.\u201d <\/em>\u2013 Dr Luiza \nHandschuh, Professor at the Institute of Bioorganic Chemistry (IBCH), Director of the \nInstitute of Bioorganic Chemistry, Polish Academy of Sciences<\/strong><\/p>\n\n\n\n

\u201cThe code matters \u2013 that\u2019s our guiding principle in conversations with families. Genetic \ntesting doesn\u2019t explain the cause of every illness, but for many children suspected of having \na rare condition, it can bring their diagnostic odyssey to an end. This is important because, \nwithout a diagnosis, we\u2019re groping in the dark; often, we even cause harm through \ninappropriate treatment. And when a treatment option exists for a particular condition, a swift \ndiagnosis can mean the difference between life and death. I know this from my own \nexperience and from the stories of many families I know. Any initiative that can help reach a \ndiagnosis is invaluable.\u201d<\/em> \u2013 Dr Ma\u0142gorzata Skweres-Kuchta, Chair of the Platinum Team \nFoundation<\/strong><\/p>\n\n\n\n

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The collaboration between the Institute of Bioorganic Chemistry of the Polish Academy of \nSciences (IBCH PAS) and the Platinum Team Foundation has now been formalised. <\/p>","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"_jet_sm_ready_style":"","_jet_sm_style":"","_jet_sm_controls_values":"","_jet_sm_fonts_collection":"","_jet_sm_fonts_links":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-3334","post","type-post","status-publish","format-standard","hentry","category-bez-kategorii"],"_links":{"self":[{"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/posts\/3334","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/comments?post=3334"}],"version-history":[{"count":4,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/posts\/3334\/revisions"}],"predecessor-version":[{"id":3342,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/posts\/3334\/revisions\/3342"}],"wp:attachment":[{"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/media?parent=3334"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/categories?post=3334"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/genomikadlapolski.pl\/en\/wp-json\/wp\/v2\/tags?post=3334"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}