Lucilla Pizzo
@lucilla_pizzo
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Human geneticist 👩🏻🔬🧬- Clinical Assistant Professor at U of Utah - ARUP Labs. Mama de Sandee y Auggie 🐕🐶 💕
Joined December 2015
Here, we present genomic signatures of different cytogenetic abnormalities, their interpretation and implications in recurrence risk counseling. We summarize points for successful interpretation of structural variants using genome sequencing in the clinical laboratory.
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The most important reason to treat people well is not what you'll get in return. It's who you hope to become. Kindness is not about reciprocity or karma. It's about character. Civility doesn't need to be justified with consequences. Respecting others is the right thing to do.
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A tour de force study on biological aging of 9 organs through genomic variants from over 377,000 @uk_biobank participants Predominant organ-specific variants but much organ crosstalk pointing to causal relationships (no organ system is an island) https://t.co/j2I7xVxBcw
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Excited to share this discovery: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles are innocuous, just unstable – CAG repeats slowy expand throughout life, acquiring toxicity only when quite long (>150 CAGs).
biorxiv.org
Huntington Disease (HD) is a fatal genetic disease in which most striatal projection neurons (SPNs) degenerate. The central biological question about HD pathogenesis has been how the disease-causing...
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Our latest, livin' the dream, synthetic shuffling of mammalian genomes, conceived+executed by the incredibly creative @sudpinglay (thread below). Paving path to MPRAs of scrambled genomes 😀 See also amazing parallel work by @JonasKoeppel @LeopoldParts @ferreira_raph_ @geochurch
Structural variants (SV) impact more nucleotides per human genome than other forms of genetic variation. To better understand SV impact, we developed a method to 'shuffle' mammalian genomes and characterize them with single-cell resolution in a pool. https://t.co/RaT8w3wAPi
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Happiness is not about reaching your goals. It's about aligning your goals with your values. Progress without purpose is empty. Achievement without impact is fleeting. Success is most rewarding when it serves the people and principles that matter to you.
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We are delighted to publish guidance for applying segregation (PP1 & BS4) and phenotype specificity (PP4) evidence to variant classification - both important approaches to implicate the variant's locus in disease. Special thanks to Les and the whole team!
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The #gnomAD v3 papers are now published! This includes the non-coding constraint paper ( https://t.co/akE9LGWymJ) & inferring compound heterozygosity paper ( https://t.co/1Gw1sTrxWI). Congratulations to everyone who contributed to this valuable work! (1/2)
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It’s not just seeing suffering that's painful. It’s hurting for others while feeling unable to help. There’s a term for that helplessness: empathic distress. Over time, it leads to burnout and withdrawal. If you're overwhelmed and exhausted by a heavy heart, you are not alone.
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Ethnicity ≠ genetic ancestry
“We celebrate National #HispanicHeritage Month & honor contributions from #Hispanic & #Latino Americans. Ethnicity ≠ genetic ancestry. Although human genetic variation reflects patterns of migration, we must recognize that mother tongues don’t always reflect ancestral origins...
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Mentorship matters. Thank you @girirajan16! Thank you @EricaFAndersen, @YuanJi1, @CinthyaZepeda, Hunter Best, Rong Mao, Bo Hong!! #DEI #MedicalGeneticsAwareness @ACMG @ARUPLabs
"Mentorship is a reciprocal learning relationship - both sides learn from each other. I’ve had exceptional mentors who motivated, inspired and supported my development and growth..." - Lucilla Pizzo, MS, PhD. #DEI #MedicalGeneticsAwareness @lucilla_pizzo @ARUPLabs
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Registration is open for my @StatHorizons livestream course, "Introduction to Statistical Genetics". If you want to learn stat gen essentials (eg, GWAS, polygenic scores, data viz, GxE) & apply them to behavioral research, consider this course! https://t.co/ARLxDs5DH7
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Please RT! Multiple postdoctoral positions to study iPSC, Drosophila, and mouse models of neurodevelopmental disorders are available my lab (funded by NIH) ( https://t.co/7D37xIEo7X). Link to my papers - https://t.co/kgAQVvFUcw Please DM me for details.
pubmed.ncbi.nlm.nih.gov
Girirajan S - Search Results - PubMed
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Registration is open for my @StatHorizons livestream course, "Introduction to Statistical Genetics". If you want to learn stat gen essentials (eg, GWAS, polygenic scores, data viz, GxE) & apply them to behavioral research, consider this course. https://t.co/ARLxDs5DH7
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A new study led by Eberly researchers @girirajan16 and @lucilla_pizzo shows how a genetic deletion linked to neurodevelopmental disorders could sensitize the genome such that mutations in other regions may interact with the deletion to exacerbate symptoms. https://t.co/xbpPTLsiSN
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Our recent paper on the two hit model and 16p12.1 deletion was featured by @PSUScience today!
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Wonderful experience to have presented my first platform talk at @TheACMG meeting! We showed the relevance of WGS in patients with rare CNVs from our work with @JensenGenetics from @girirajan16 lab at @PSUScience! #ACMGMtg21
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Really excited that our fly/Xenopus paper on testing the "two-hit" model for 16p12.1 del is published @PLOSGenetics. Thanks to all authors including 6 undergraduate students from @PSUScience @BMB_PSU for hard work.
journals.plos.org
Author summary Copy-number variants, or deletions and duplications in the genome, are associated with multiple neurodevelopmental disorders. The developmental delay-associated 16p12.1 deletion is...
Our latest work on the functional assessment of the “two-hit” model for variability of neurodevelopmental defects using Drosophila and Xenopus models is out https://t.co/uGxRV5AYX7
@lucilla_pizzo @BMB_PSU @PSUScience
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Excited to share our review on the use of Drosophila and zebrafish models for dissecting CNV pathogenicity - now published in Current Opinion in Genetics & Development. @TanzeenYusuff Georgios Kellaris and @NicholasKatsan1
https://t.co/8VIOhYOioF
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