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single-molecule.bsky.social @single-molecule.bsky.social · 2d

Both my wife and I got double-vaxed yesterday, flu and Covid. I feel safer already and sorry for those who have been duped by RFK Jr and his deadly anti-vax friends. There is no safer, better preventative than a vaccine. We should be encouraging vaccinations, not making it difficult to get them

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Reposted

Robert Reich @rbreich.bsky.social · 6d

If this country was truly “pro-life,” we would have Medicare for All, a Green New Deal, gun reform, universal child care, and a living wage.

The right-wing agenda isn’t about “life.”

It’s about control.

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single-molecule.bsky.social @single-molecule.bsky.social · 6d

firstwordhealthtech.com/story/6228854
#Nabsys will be well represented at #ASHG25 in two weeks in Boston. I will be presenting my own poster on Friday but also available to discuss posters on repeat expansions and use of CRISPR to customize EGM for genomic assays that are otherwise impossible

firstwordhealthtech.com

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single-molecule.bsky.social @single-molecule.bsky.social · 11d

The up escalator at the Eagle Rock Target was broken today, forcing my wife and me to walk up. I expect an investigation and inclusion in the escalator files, never to be released.

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single-molecule.bsky.social @single-molecule.bsky.social · 15d

Was walking around Harvard and saw this. Things have not gotten better in 62 years

Statue with civil rights quote from John Kennedy

Reposted

Morgan J Freeman @mjfree.bsky.social · 17d

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single-molecule.bsky.social @single-molecule.bsky.social · 20d

www.mobilize.us/nokings/map/...

October 18 just about everywhere

Reposted

Senator Sheldon Whitehouse @whitehouse.senate.gov · 25d

Turning off the fire alarms won’t prevent the fire.

US Treasury-led watchdog dismantles climate advisory panels

U.S. financial regulators voted on Wednesday to disband two committees charged with monitoring financial risks brought on by climate change, ending a multi-year Biden administration effort to embed climate threats into financial regulations.

www.reuters.com

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single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 JY: Can do all by all testing of compounds x cancer models. 50 cancer models, 1200 drug treatments, 60K experiments, 100M cells

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 Johnny Yu from Tahoe Therapeutics to talk about virtual cell models. Single cell work has advanced dramatically in 10 yrs

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 JK: Could apply functional data to reclassify 682 VUS. Look at All of Us data, rare LOF missense have higher risk of cancer. AlphaMissense prediction calls too many variants pathogenic

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 JK: Lynch syndrome is first inherited cancer risk syndrome, LOF in DNA mismatch repair genes. Most are missense with most being VUS. Apply 6-TG to cells to select MMR- proteins. Mapped 73,568 missense variants. Most have no effect but there are hot spots for impact

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 Jacob Kitzman from UMich will talk about variants in hereditary cancer syndromes

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 TY: N=1 collaborative working on sharing knowledge and guidelines for use, need innovative regulatory models

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 TY: Another dozen genes being treated, more than 30 patients so far. ASOs great version 1 but gene editing could have broader applications

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 TY: de novo KCNT1 R474H mutation leads to increased channel firing. Used ASO to shut down mutant protein. Daily seizures dropped from 10-15 to 0-2 and stayed down for 50 days but patients developed hydrocephalus. Now being tracked for other ASOs, try to keep dose lower.

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 TY: Proposal for N=1 medicine to help patients with no other options. Led to FDA guidance for individualized medicine. New trials in ATM kinase, KCNT1 and FLVCR1. ATM trial is longest running N=1. Have seen no clinical progression on primary outcomes.

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 TY: Milasen is ASO that introduced N=1 medicine. SIgnificantly lowered seizure frequency and improved quality of life but did not save life. Post-mortem studies showed it was working.

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 TY: Going straight from genetics to therapeutics will increase efficiency. Antisense oligonucleotides (ASOs) are easy to manufacture, easy to predict effects, multiple uses

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 TY: Mind the gap. Genome sequencing has shortened diagnostic odyssey but not the path to therapy. Many rare diseases are too rare to be commercially investable. Not obvious they weren't being addressed because causes unknown. Now we know what we're not doing.

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 Tim Yu from BCH/Harvard Med talking about interventional genetics.

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 HM: ongoing trials of targeted therapies including SCN1A with ASO targeting poison exon and a cell selective gene therapy. For SCN2A, ASO knockdown. How to scale? 13 genes with ASO in preclinical development, 5 in clinic or trial

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 HM: UBA5 Dad was Hypo/+, mom was LOF/+. Child was Hypo/LOF. Hypo/Hypo can be healthy so try to boost expression of Hypo allele. Tried SINEUPs using lncRNA and CRISPR dCAS9 with activator domain to boost protein expression

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 HM: identify the target, model the disease, engage patients. Can try gene replacement, ASOs, gene editing, gene regulation

single-molecule.bsky.social @single-molecule.bsky.social · 28d

#AGBTPH25 HM: developmental and epileptic encephalopathies - most drugs don't work; early onset, intractable seizures; hundreds of genes identified, 50% diagnostic rate, de novo variants are important, overlap with ID, autism