@ajhgnews.bsky.social's latest article addresses an important GWAS consideration: moving from variants to mechanism. This study reveals biological pathways shaping immune trait associations: https://bit.ly/3PZwPzQ #ASHG #HumanGenetics

HGG Advances Online Journal Club

Hear it directly from the author.
Join TODAY’s Journal Club for a live presentation + Q&A with @robbeewedow.bsky.social, exploring how genetics education challenges genetic essentialism.

⏰Starts at 12 pm U.S. ET
🔗Register now: https://bit.ly/4rF8FrE @hggadvances.bsky.social #ASHG #HumanGenetics

What will next week’s Journal Club cover @robbeewedow.bsky.social explains—in under a minute.

Watch the video, then follow the link to register!
🗓️April 8
🔗learning.ashg.org/products/genetics-curric... #ASHG #HumanGenetics @hggadvances.bsky.social

Ingénieur en IA

We’re hiring a Research Engineer in AI @ Fondation Jean Dausset - CEPH!!!
If you're interested in applying AI to human genetics, more details here: www.fjd-ceph.org/offres-dempl...

#eXplainable #artificial-intelligence #AI #deep-learning #CEPH #HumanGenetics #polymorphism #bioinformatics

@hggadvances.bsky.social's latest article provides systematic evidence that sex-differentiated somatic regulation underlies tumor-intrinsic mechanisms in multiple myeloma, reinforcing the need for sex-aware molecular analyses in precision medicine: https://bit.ly/4s6j2VE #ASH #HumanGenetics

@ajhgnews.bsky.social sat with @itskatelawrence.bsky.social, in the latest "Inside AJHG" to discuss her recently published paper, “Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants.“➡️ https://bit.ly/4m2sTud #ASHG #HumanGenetics #GeneticsDiscoveries

Through a community-based participatory research approach, @hggadvances.bsky.social's latest article aims to identify barriers & actionable strategies to improve genetic testing completion offered through the Breast Health Assessment: https://bit.ly/4t6uilG #ASHG #HumanGenetics #GeneticsDiscoveries

A promotional share-pic for the conference. Below the Title there’s a scenic view from Warsaw and the date 09.-10. April and a QR code pointing to the conference program at https://ern-ithaca.eu/events-news/eurondd/program/program-2026/

I’ll attend the #EuroNDD Workshop in Warsaw in April. Anyone around here going there as well? —> let’s connect!

I’m looking forward to present our work at www.findme2care.de AND hear about all the other projects.

#humangenetics #genetics #RareDiseases #RareDisease #ERN #ERNIthaca #patientregistry

Congrats to our experts who are part of the eMERGE Network, advancing how genetic risk is shared responsibly. Learn more about the study on our Science Blog: scienceblog.cincinnatichildrens.org/yes-genetic-...

@geneticssociety.bsky.social @genomeweb.bsky.social #GenomicMedicine #HumanGenetics

🌍 Can’t make it to Gothenburg? Join ESHG 2026 online!

💻 Live-streamed sessions
📅 6 months on-demand access
🌐 Global genetics insights

👉 2026.eshg.org/registration/

Reduced virtual registration fees for participants from low- & middle-income countries.

#eshg2026 #Genetics #Genomes #HumanGenetics

@hggadvances.bsky.social latest study identifies bi-allelic variants in two AP-5 complex genes, AP5Z1 and AP5B1, in patients with macular degeneration, highlighting the importance of membrane trafficking in maintaining retinal health: https://bit.ly/3PgrVhw #ASHG #HumanGenetics #GeneticsDiscoveries

#ASHG Board of Directors service carries influence & impact—but only two days are left to apply! Open positions include opportunities for full #ASHGmembers, trainees, & early‑career professionals. Nominate yourself or a colleague before applications close: https://bit.ly/4biWE6l #HumanGenetics

AJHG Online Journal Club

Dive into the data behind a 14,000+ patient study revealing major disparities in adult genetic care evaluations in TODAY'S Journal Club webinar. We’re going live at 12 PM ET! 👉 Register before we start: https://bit.ly/4qULIA5 #ASHG #HumanGenetics @tdrivas.bsky.social @ajhgnews.bsky.social

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected ...

wake up babe new *inheritance pattern for #MarfanSyndrome* just dropped!

SO interesting. Familial #Marfan syndrome with an unaffected parent. The potential for trisomy FBN1 (would aorta and joints be extra strong?!) I love old-school #HumanGenetics. #Genetics pmc.ncbi.nlm.nih.gov/articles/PMC...

Explore the future of #genomic medicine in our on-demand webinar. Gain insights on #populationgenomics, genetic diversity and precision healthcare.

#GenomicDiversity #PrecisionMedicine #HumanGenetics #NGS #Bioinformatics #TranslationalResearch #LifeSciences https://tinyurl.com/22rrhma8

https://www.cell.com/ajhg/fulltext/S0002-9297(26)00029-7 No description available

Exciting insights from the 2025 ASHG address in Boston: advancing genetics with 10 key breakthroughs impacting 7 diseases! #HumanGenetics PMID:41795467, Am J Hum Genet 2026, @AJHGNews www.cell.com/ajhg/fulltext/S0002-9297... #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

@hggadvances.bsky.social's latest article introduces practical approaches for leveraging multiple observations to assess impacts on GWAS power, SNP-heritability, gene set enrichment, and polygenic prediction: www.cell.com/hgg-advances/fulltext/S2... #ASHG #HumanGenetics

The #ACMGMtg26 exhibit hall is open—and it comes at a meaningful time as we recognize #MedicalGeneticsAwarenessWeek & the professionals advancing the #humangenetics and genomics field. Visit us at Booth 1929 to learn how #ASHGmembership supports your career and get updates on upcoming programs.

Endothelial cell–released CD93 contributes to podocyte injury in idiopathic nephrotic syndrome Soluble CD93 contributes to podocyte injury, and CD93 blockade emerges as a candidate therapeutic target in INS.

Great paper from @carafuentes-neph.bsky.social !!
Tackling #nephroticsyndrome from many angles, better treatments are on the horizon!
Congrats Gabriel & team!!!!
#FSGS #pediatricnephrology #NephSky #SkyNeph #humangenetics
@science.org
www.science.org/doi/10.1126/...

Authors of @hggadvances.bsky.social's latest article develop BAF-Wald, a pathogenicity predictor for subunits of the BAF chromatin remodeling complex. The use of gene-specific features allows BAF-Wald to outperform other variant-effect prediction tools: https://bit.ly/3Ng9aKt #ASHG #HumanGenetics

Rare diseases affect approximately 300 million people worldwide. Over 70% are genetic, yet many still face diagnostic delays and limited access to care.
Advancing #HumanGenetics research is essential for better diagnosis and lifelong outcomes. 🧬
#RareDiseaseDay #RareButNotAlone

Research suggests mating direction bias between Neanderthals and humans Scientists say DNA evidence indicates male Neanderthals and human females interbred more often than opposite

Apparently, women have _always_ liked a bit of rough when it comes to mating...

#Genetics #HumanGenetics #Genealogy
#Science
www.theguardian.com/science/2026/feb/26/male...

Research from @ajhgnews.bsky.social's latest article reports false-positive newborn screening tests for SMA in two healthy children. Rapid functional testing of rare SMN1 variants provided clarity to families & saved millions in unnecessary treatments: https://bit.ly/4kHtSPD #ASHG #HumanGenetics

Adriaan van der Graaf, PhD

@ajhgnews.bsky.social sat with @adriaan-vd-graaf.bsky.social in the latest "Inside AJHG" to discuss his recently published paper, “Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues.”➡️ bit.ly/46di69J #ASHG #HumanGenetics

ASHG 2027 Board of Directors nominations are open! 5 roles available: one President and four Director seats—2 dedicated for trainee & early career members. Active members passionate about ASHG, apply or nominate a colleague by March 20: https://bit.ly/4qBJndg #ASHG #HumanGenetics

From lab bench to bedside – research in mice leads to answers for undiagnosed human neurodevelopmental conditions The findings have provided answers to families that until now had no diagnosis for their child's condition.

Years of research with animal models led to answers to families with a child with undiagnosed conditions. D. Calame and @jesse-levine.bsky.social. blogs.bcm.edu/2026/02/10/f... @bcmhouston.bsky.social @gregor-research.bsky.social @ajhgnews.bsky.social #HumanGenetics #TexasChildrens

Authors of @hggadvances.bsky.social latest article employ the STAAR framework to enhance the strength of gene-based analyses, thereby improving statistical validity & consistency in identifying rare variant associations in WGS data from a large, diverse cohort: bit.ly/4kgxEzn #ASHG #HumanGenetics

Competition in human genetic technologies: The current US legal landscape Here, we offer a perspective on the US legal landscape regarding the promotion of competition, with specific attention given to the human genetics and genomics industry. We highlight current policy on...

The latest @ajhgnews.bsky.social article from @dnalawyer.bsky.social & colleagues offers a perspective on the U.S. legal landscape regarding the promotion of competition, with specific attention given to the human genetics and genomics industry: bit.ly/3Z1b18i #ASHG #HumanGenetics

Our PhD student Syrine presented her work at the "Assises de Génétique Humaine et Médicale" in Cannes. Bravo to her for a great poster!
@pasteur.fr @ipdbsc.bsky.social @chem4life.bsky.social #PhDLife #Genetics #HumanGenetics #Research #InstitutPasteur #ScientificConference

Enjoyed today’s webinar? Come back tomorrow at 12 PM ET for insights from NHGRI's extramural leadership on the latest NIH/NHGRI policy, structural, and priority changes—including foreign collaborations, data sharing, & funding opportunities. Register now: https://bit.ly/464LpLq #ASHG #HumanGenetics