#genesky
🔬SMCHD1 is associated with Prader-Willi syndrome, a genetic disorder that disrupts brain development. Using CRISPR, it is possible to restore the activity of the silenced genes, representing a promising path to treatment targeting the root cause of the disorder.

#MolecularBiology #GeneSky #SciComm
November 4, 2026 at 11:01 AM
TIL: Part of California Title 24. So, yeah, apparently there is a law about this.

www.adasigndepot.com/blogs/news/w...
Who Invented California Title 24 Circle and Triangle Restroom Door Signs?
Question: Who Invented Geometric Circle and Triangle Restroom Door Signs? The short answer: Samuel M. Genensky (1927-2009) Sam Genesky was American computer scientist best known as an inventor for devices to assist sight-impaired persons and his advocacy on behalf of the blind. In 1978 he founded the Center for the Partially Sighted, a Los Angeles facility with the mission to provide the tools and techniques that maximize the ability of partially sighted children and adults to live successful and independent lives. According to Wikipedia, Sam Genesky was also nearly blind. When Genensky was born, the Commonwealth of Massachusetts had a requirement that all newborn babies receive drops of dilute silver nitrate in both eyes, to prevent the possible passage of syphilis from mother to child. He received the required drops, but unfortunately the chemical had not been diluted, and both his eyes were badly burned. Three months later he was treated by Dr. Frederick H. Verhoeff, a highly regarded specialist in ophthalmology, who performed partial iridectomy on both eyes (thinking that glaucoma would otherwise occur). The result of the burns and the iridectomies was complete loss of vision in Genensky’s left eye and near-blindness in the right eye (the best he ever achieved in vision testing was 20/1000).  Sam Genensky went on to earn a Master’s degree from Harvard and a Doctorate from Brown. After graduation he joined the RAND Corporation, where he headed the invention of CCTV closed circuit television) to help people of all ages, young and old, who still had some remaining vision but were not yet completely blind. But what about those Triangle and Circle Restroom Door signs used in California and so many other states? It is said that, “Necessity is the mother of invention.” And it was necessity that led Sam Genensky’s to inventing what is now known as California Title 24 Geometric Restroom Door Signs. In the 1970’s, while Dr. Sam Genensky was working for the RAND Corporation located in Santa Monica, California, he had some awkward experiences looking for a bathroom. The signs marking the restrooms were too small for him to read unless he put his face right up to the door. Sometimes the door he was peering at turned out to the wrong door, and he would startle a woman coming out. When a Rand security guard asked the scientist why he was “smelling restroom doors,” Genensky resolved to solve the problem. As Paul Baran, a scientist and colleague of Genesky’s at Rand has stated, “He’s the guy responsible for the triangle and circle,” referring to the widely adopted system of a triangle-shaped sign to identify the men’s room and a circle-shaped one for the women’s room. Genensky’s “geometry” eventually became the standard for marking public restrooms in California. At first, just the geometric symbols were used. Later, expanding the attempt to make restrooms accessible for everyone, designers and sign makers added pictograms to represent Men and Women and Unisex restroom signs. Other states began to follow the example set by California. Then in 1990, the Americans With Disabilities Act (ADA) became the law of the land, creating Federal standards for restrooms. But the authors of the ADA chose not to adopt the established door symbols already in use in California and other states. Instead, they developed a Wall sign adjacent to the door and used raised pictograms and braille. Other standards were created as to size, mounting and accessibility requirements. Restrooms were required to become accessible to wheelchairs and the new International Symbol of Accessibility (ISA) was required to be posted. Thank you, Sam Genesky!
www.adasigndepot.com
November 4, 2026 at 5:47 PM
Internship opportunity! 🧠🧬🖥️

We are looking for a motivated MSc student to join us for a bioinformatics internship on stuttering!

www.mpi.nl/career-educa...

#research #stuttering #language #neuroskyence #GeneSky @clydefrancks.bsky.social @profsimonfisher.bsky.social @mpi-nl.bsky.social
Internship opportunity: Why do people keep stuttering? Using genetics and brain imaging to trace stuttering in the brain | Max Planck Institute
www.mpi.nl
October 20, 2026 at 8:09 AM
AI Can Detect Hidden Signs of Aging in the 3D Architecture of DNA | #biosky #genesky
AI Can Detect Hidden Signs of Aging in the 3D Architecture of DNA
scitechdaily.com
October 6, 2026 at 2:14 PM
Cancer fighting T-Cells burn out. Scientists may have found a fix | #cancer #io #biosky #genesky
Cancer-fighting t cells burn out. Scientists may have found a fix
Cancer immunotherapy can lose its punch when tumor-fighting T cells become exhausted, but researchers may have found a way to keep them going longer. Scientists at Memorial Sloan Kettering Cancer Cent...
www.sciencedaily.com
October 6, 2026 at 2:31 PM
Exciting work from the @cdneurogenomics.bsky.social Thanks to @leelab.bsky.social @panosroussos.bsky.social and @volou.bsky.social for bringing me into this collaboration. Glad to be part of the team. 🧪 #genesky #academicsky @sinaibrain.bsky.social
Today we're publishing nine #PsychAD papers across @NaturePortfolio journals, mapping 6.3M+ brain cells to study aging, disease, genetic regulation and new computational methods. Explore the PsychAD collection: nature.com/collections/... Learn more: psych-ad.org #OpenScience
September 23, 2026 at 4:32 PM
Reminder! The 2026 African Turquoise Killifish Conference is coming to MDI Bio Lab Oct 1–3!

Researchers studying aging, regeneration, development & disease are invited to join this hybrid meeting focused on collaboration and scientific discovery. #genesky #scicomm #devbio
African Turquoise Killifish Conference 2026
A three day conference to facilitate scientific exchange and connections among the African turquoise killifish community.
mdibl.org
August 13, 2026 at 7:00 PM
Hailing Shi and her lab are advancing a powerful technique called spatial transcriptomics. To drive their research, Shi’s lab recently installed a customized microscope set-up. #genesky 🧬 med.emory.edu/departments/...
October 8, 2025 at 7:32 PM
New research from our department + partners led by Elizabeth Leslie-Clarkson! Genetic variants in PRKCI causing Van der Woude syndrome: cleft lip/palate + lip pits. This is 3rd gene responsible for VWS -- 1st (IRF6) discovered in 2002 #Genesky @scgdb.bsky.social www.cell.com/ajhg/abstrac...
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
De novo missense variants in PRKCI are loss of function and disrupt periderm, resulting in a heterogeneous phenotype including orofacial clefts, clinical features of Van der Woude syndrome, and relate...
www.cell.com
September 2, 2025 at 5:08 PM
We are honored to host Eric Green, former director of National Human Genome Research Institute, next week (noon, May 7, Whitehead auditorium) #GeneSky
April 28, 2025 at 7:53 PM
Good news! Although we are not able to offer the full Next Gen high school internship program this summer, we are planning a series of four in-person "boot camps", in which students will get a close-up look at what we do. More to come. #GeneSky
April 14, 2025 at 5:00 PM
Genetic counselor Emalyn Cork explains the value of clinical-grade testing re the decline of 23andMe - thanks
@ajc.com 🧬 #Genesky
#IAmAGeneticCounselor #geneticcounseling www.ajc.com/2025/03/you-...
AG Chris Carr urges Georgians to ‘strongly consider’ deleting 23andMe accounts
23andMe's bankruptcy raises urgent concerns about genetic data privacy. A local expert explains what protections exist and what users should do now to protect their DNA.
www.ajc.com
March 26, 2025 at 5:33 PM
Applications for the 2025 Next Gen high school internship program are open -- due by Feb 14 -- tell a HS student you know! #scienceeducation #internships #genesky med.emory.edu/departments/...
January 8, 2025 at 5:30 PM
We are looking forward to Thursday's Warren lecture by Christopher Walsh @bostonchildrens.bsky.social on Somatic Mosaicism in Brain -- anticipating he may mention this paper: 🧬 #genesky pmc.ncbi.nlm.nih.gov/articles/pmi...
December 3, 2024 at 3:43 PM
New publication!
From Bing Yao’s and Yue Feng’s labs
circGigyf2 diminished both in 5xFAD mice and in AD patient brain samples. May function as sponge for miRNAs/splicing factors; depleting circGigyf2 enhances neuronal sensitivity to apoptosis
link.springer.com/article/10.1...
🧬 #Genesky
Identification of pathological pathways centered on circRNA dysregulation in association with irreversible progression of Alzheimer’s disease - Genome Medicine
Background Circular RNAs (circRNAs) are highly stable regulators, often accumulated in mammalian brains and thought to serve as “memory molecules” that govern the long process of aging. Mounting evide...
link.springer.com
November 14, 2024 at 3:21 PM
Research from our dept on #genetherapy for #galactosemia is one of Journal of Inherited Metabolic Disease's top 10 most-cited papers #TopCitedArticle -- senior author Judy Fridovich-Keil is world expert on galactosemia #genesky 🧬https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12471
April 23, 2024 at 3:08 PM
Looking forward to host Christopher Walsh walshlab.org for Warren Distinguished Lecture in December #GeneSky #Neuroscience
Walsh Lab | Research on Developmental Disorders of the Brain
walshlab.org
March 15, 2024 at 2:39 PM
Sometimes reading a case report leaves you in suspense! #GeneSky
19 year old woman with double pathogenic variant in NPHP3 (cilia/Wnt pathway) resulting in nephronophthisis = advanced liver/kidney disease, needing double transplant www.ncbi.nlm.nih.gov/pmc/articles...
March 13, 2024 at 3:13 PM
From Steven Hyman of Harvard/NIMH: "I sometimes think that it is criminal that Mendel is taught in school without even a whiff of quantitative genetics to balance it." #GeneSky 🧬 www.psychiatrymargins.com/p/a-note-fro...
A Note From Hyman on the Genetic Complexity of Psychiatric Disorders
“Our brains are not like Mendel’s peas.”
www.psychiatrymargins.com
January 29, 2024 at 3:40 PM
Our own Dr Sanchez Russo reports on 1st potential enzyme replacement therapy for arginase 1 deficiency, in a multi-center RCT. Sponsor: Aeglea Biotherapeutics. #GeneSky 🧬https://clinicaltrials.gov/study/NCT03921541 www.thelancet.com/journals/ecl...
January 22, 2024 at 2:33 PM
In particular, TDP-43 deficiency attenuates long-range enhancer/promoter interactions. Shows common mechanism across neurodegenerative disorders and important stabilizing role of TDP-43 + other RNA-binding proteins 🧬 #Genesky 4/4
January 11, 2024 at 7:36 PM
TDP-43 deficiency slows proliferation and impairs DNA repair response. Authors show this comes because of dysregulation of R loops (3 strand RNA/DNA structures) and 5hmC (hydroxymethylcytosine, oxidized DNA methylation): some genes more, some less 🧬 #Genesky ¾
January 11, 2024 at 7:36 PM
RNA binding protein TDP-43 forms cytoplasmic aggregates in brain diseases such as ALS, FTLD and Alzheimer’s. Yao’s lab modeled consequences by stable knockdown in neuroblastoma cells. 🧬 #Genesky 2/4
January 11, 2024 at 7:35 PM
New research from our department. When TDP-43 depleted from nucleus in neurodegenerative disorders such as #ALS,  transposable elements (zombies of the genome) come alive. Bing Yao + colleagues describe how in Cell Reports paper. 🧬 #Genesky 1/4  pubmed.ncbi.nlm.nih.gov/38184854/
January 11, 2024 at 7:35 PM
Gene therapy - a perfect example of how investing in scientific research changes our patients’ lives @andrewgregory.com #medsky #genesky
U.K. doctors cure blindness in children with rare genetic condition. Four children with leber congenital amaurosis can now see shapes, find toys, recognise their parents’ faces and some can read and write, by @andrewgregory.com www.theguardian.com/society/2025... via @theguardian.com #GeneTherapy
Doctors in London cure blindness in children with rare condition
Four children can now see shapes, find toys, recognise their parents’ faces and some can read and write
www.theguardian.com
February 21, 2025 at 2:17 PM