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<title>Cristian Pattaro</title>
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  <title>KidneyGen Africa 1st workshop</title>
  <link>https://cristianpattaro.quarto.pub/cp/posts/2026-31_01_KidneyGenAfricaWS/</link>
  <description><![CDATA[ 





<p>A joy to be part of the training committee of the 1st <a href="https://www.kidneygenafrica.org/">KidneyGen Africa</a> workshop on Jan 25-31 in Johannesburg. A great opportunity of exchange with many outstanding scientists and young African researchers on CKD and how to use genomics to improve health.</p>
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<p><img src="https://cristianpattaro.quarto.pub/cp/posts/2026-31_01_KidneyGenAfricaWS/1770127426404.jfif" class="img-fluid figure-img" alt="" width="300"></p>
<figcaption>Pic from KidneyGen Africa</figcaption>
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 ]]></description>
  <category>GWAS</category>
  <category>kidney function</category>
  <category>Africa</category>
  <guid>https://cristianpattaro.quarto.pub/cp/posts/2026-31_01_KidneyGenAfricaWS/</guid>
  <pubDate>Fri, 30 Jan 2026 23:00:00 GMT</pubDate>
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  <title>One size does not fit all</title>
  <link>https://cristianpattaro.quarto.pub/cp/posts/2026-01-21_KIcommentary/</link>
  <description><![CDATA[ 





<p>Following a kind invite by <a href="https://www.kidney-international.org/">Kidney International</a>, Prof.&nbsp;<a href="https://www.hug.ch/nephrologie-hypertension/pre-belen-ponte">Belen Ponte</a> and I wrote a short commentary on the <a href="https://linkinghub.elsevier.com/retrieve/pii/S0085-2538(25)00781-1">genomic screening of kidney volumes</a> paper by <a href="https://www.linkedin.com/in/sara-monteiromartins/?originalSubdomain=de">Sara Monteiro-Martins</a> and colleagues. Using convolutional neural networks (CNNs) the group led by <a href="https://www.uniklinik-freiburg.de/genetic-epidemiology/team.html">Anna Köttgen</a> conducted parallel GWAS of the volumes of kidney cortex, medulla, and sinus in 40K people.</p>
<p>Writing this piece gave us the opportunity to reflect on the heterogeneous manifestations of CKD, a disease with many different legs, and how CNNs may open several opportunities to fill existing knowledge gaps. Time ahead will be exciting.</p>
<p>Our piece is available here: <a href="https://www.kidney-international.org/article/S0085-2538(25)00948-2/fulltext">Genomics of kidney volumes: one size does not fit all</a>, Kidney Int 2026</p>
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 ]]></description>
  <category>GWAS</category>
  <category>kidney function</category>
  <guid>https://cristianpattaro.quarto.pub/cp/posts/2026-01-21_KIcommentary/</guid>
  <pubDate>Tue, 20 Jan 2026 23:00:00 GMT</pubDate>
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  <title>Servants of all sciences?</title>
  <link>https://cristianpattaro.quarto.pub/cp/posts/2025-12-19_UniPD/</link>
  <description><![CDATA[ 





<p>Always an emotion to return to my alma mater! As part of Prof.&nbsp;Laura Ventura’s Medical Statistics course at the <a href="https://www.stat.unipd.it/">Department of Statistics</a> @ University of Padova, I had the chance to reflect with students about applications of biostatistics. The lecture <a href="https://www.stat.unipd.it/servitori-di-tutte-le-scienze-il-ruolo-degli-statistici-nel-progresso-scientifico-applicazioni">Servants of all sciences? The role of statisticians in the scientific progress - applications in biomedicine</a>, developed in honour of <a href="https://en.wikipedia.org/wiki/Jerzy_Neyman">Jerzy Neyman</a>, was meant to stimulate a reflection on the role of statisticians, between applications, theory, support and leadership, through my personal experience in statistical genetics.</p>
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<p><img src="https://cristianpattaro.quarto.pub/cp/posts/2025-12-19_UniPD/IMG-20251219-WA0002.jpg" class="img-fluid figure-img" alt="" width="300"></p>
<figcaption>Photo courtesy of Laura Ventura</figcaption>
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 ]]></description>
  <category>statistics</category>
  <category>biomedicine</category>
  <guid>https://cristianpattaro.quarto.pub/cp/posts/2025-12-19_UniPD/</guid>
  <pubDate>Thu, 18 Dec 2025 23:00:00 GMT</pubDate>
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  <title>SISMEC Congress 2025</title>
  <link>https://cristianpattaro.quarto.pub/cp/posts/2025-09-10_SISMEC/</link>
  <description><![CDATA[ 





<p>Participating to the 2025 <a href="https://www.sismec.info/congresso2025/">SISMEC congress</a> in the beautiful Pavia was extremely interesting. In front of Ghislieri statue, the congress was opened by Prof.&nbsp;Buscema’s outstanding lecture on the use of AI in biomedical imaging.</p>
<p><a href="https://riviste.unimi.it/index.php/ebph/article/view/29455">My communication</a> was an elaboration of the concept of triangulation in casual inference applied to molecular biology, using our desmoplakin experiment as a working example (see <a href="../../posts/2025-07-30_DSP_paper/index.html">previous post</a>).</p>
<p>From our group, <a href="https://www.eurac.edu/en/people/roberto-melotti">Roberto Melotti</a> described <a href="https://riviste.unimi.it/index.php/ebph/article/view/29552">how fine motor performance changes with age</a> and <a href="https://www.linkedin.com/in/giulia-barbieri-855287179/?originalSubdomain=it">Giulia Barbieri</a> discussed <a href="https://riviste.unimi.it/index.php/ebph/article/view/29189">how menopause may modify the relation between dietary patterns, metabolomic profiles and metabolic health</a>.</p>
<p>Congress proceedings can be found <a href="https://riviste.unimi.it/index.php/ebph/issue/view/2690">here</a>.</p>
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 ]]></description>
  <category>triangulation</category>
  <category>causal inference</category>
  <category>neuroepidemiology</category>
  <category>nutritional epidemiology</category>
  <guid>https://cristianpattaro.quarto.pub/cp/posts/2025-09-10_SISMEC/</guid>
  <pubDate>Tue, 09 Sep 2025 22:00:00 GMT</pubDate>
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  <title>DSP-AS1 has a regulatory role on DSP</title>
  <link>https://cristianpattaro.quarto.pub/cp/posts/2025-07-30_DSP_paper/</link>
  <description><![CDATA[ 





<p><img src="https://cristianpattaro.quarto.pub/cp/posts/2025-07-30_DSP_paper/Screenshot 2026-01-05 at 16-25-31 Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression Human Genetics.png" class="img-fluid"></p>
<p>After a long journey, we could finally publish this <a href="https://link.springer.com/content/pdf/10.1007/s00439-025-02761-x.pdf">fantastic work</a>.</p>
<p>The reseach, led by outstanding <a href="https://www.eurac.edu/en/people/luisa-foco">Luisa Foco</a>, started from the interest of our colleagues <a href="https://www.eurac.edu/en/people/alessandra-rossini">Alessandra Rossini</a> and <a href="https://www.eurac.edu/en/people/marzia-de-bortoli">Marzia De Bortoli</a> into the molecular mechanisms of arrhythmogenic cardiomyopathy. We observed that most disease-causing mutations occur in desmosomal genes. Given rare inherited and common chronic conditions are at different ends of a common genetic background, we conducted genomic association studies between common variants at the 5 desmosomal genes and ECG traits assessed in general population individuals. Our key finding was a variant located in the DSP gene associated with the QRS interval.</p>
<p>Functional annotation revealed that the variant is located in a short segment where the DSP gene overlaps one of its antisense microRNA, the DSP-AS1. Interestingly, the identified variant was associated with DSP-AS1 but not DSP expression. Two-sample <em>Mendelian randomization</em> revealed a <strong>causal effect of the antisense RNA DSP-AS1 on both DSP and QRS interval</strong>. The causal effect of DSP-AS1 on DSP was confirmed by <em>in vitro</em> experiments on human induced pluripotent stem cell derived cardiomyocytes. Altogether, these findings support DSP-AS1 as a potential target for DSP-related diseases.</p>



 ]]></description>
  <category>causal inference</category>
  <category>Mendelian randomization</category>
  <category>genomics</category>
  <category>desmoplakin</category>
  <category>CVD</category>
  <guid>https://cristianpattaro.quarto.pub/cp/posts/2025-07-30_DSP_paper/</guid>
  <pubDate>Tue, 29 Jul 2025 22:00:00 GMT</pubDate>
  <media:content url="https://cristianpattaro.quarto.pub/cp/posts/2025-07-30_DSP_paper/Screenshot 2026-01-05 at 16-25-31 Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression Human Genetics.png" medium="image" type="image/png" height="44" width="144"/>
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