Lastly, we will hear from a patient advocate in the talk “A Silver Lining: A parent’s perspective on how far we’ve come and your impact”
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"Every patient has a story. Let them tell it." A powerful reminder that behind every genetic result is a family navigating uncertainty, grief, and hope; and that our communication matters as much as our science. #GeneticCounseling #genechat
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From no genetic testing in the 90s to identifying variants across 110+ genes linked to Leigh syndrome today. Today's story traced the impact of genomic progress on families living with rare disease. #genetics #RareDisease
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Next we will here from Dr. Anwar Iqbal on how Optical Genome Mapping enables Next-Generation Cytogenetics
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Really interesting session on optical genome mapping (OGM) as next‑gen cytogenetics. It offers a genome‑wide view like karyotype, but with resolution closer to (and beyond) microarray, and it can detect balanced structural variants that arrays miss. #Cytogenetics #OGM
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Key takeaways from the episignature talk:
-Over 100 conditions now have recognizable epigenetic -signatures
-Especially powerful for interpreting VUS in genes that regulate methylation
-Not a replacement for exome or genome
#Episignature #Epigenetics
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From ‘no diagnosis’ to clear answers: episignature testing is helping resolve tough cases with:
-Undiagnosed neurodevelopmental disorders
-Suspected imprinting conditions
-Overgrowth/undergrowth syndromes
#RareDisease
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Next we will here from Lexi Hubbel, MS, CGC on Methylation Episignature Testing: A diagnostic tool for VUS resolution and undiagnosed rare disease
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First up we have Dr. Alex Levin from @FlaumEye Institute at the University of Rochester who will speak about Ocular gene therapy: opportunities, successes, and challenges
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There however are political, financial, and sociological barriers that keep this from being available to everyone that it could potentially be helpful for.
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Good morning! We are just getting started. Still time to join our September meeting! We have a bunch of great speakers today. Here is the link to register: us06web.zoom.us/meeting/regi…
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Join us Sept 9 for the next NYSGTF meeting: Genetics Updates in the Clinic and Beyond
🗓️ 9/9/26 | 9:00am
📍 In-person @UR_Med, Rochester, NY + virtual option
Register: us06web.zoom.us/meeting/regi…
Agenda below ⬇️
#genetics #NYSGTF #genechat
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Free genetics education for your community 🧬 Schools, faith groups, clubs — we'll tailor a session to fit. Reach out: outreach@nysgeneticstaskforce.org
#genetics #GeneticCounseling #NYSGTF #genechat #healtheducation #geneticseducation
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⏰ Reminder: NYSGTF Grant applications close August 15th!
Supporting DEI initiatives in genetics/genomics
Must be enrolled/employed/reside in NY.
Apply before Aug 15: nysgeneticstaskforce.com/dei…
#genetics #NYSGTF #genechat #nys
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📅 Two weeks away! Join us June 3 for "Continuing the Diagnostic Odyssey". 🆕 NEW location: Mount Sinai Hatch Auditorium, NYC. In-person & virtual! Follow us on Instagram @nysgentaskforce! Register: us06web.zoom.us/meeting/regi… #NYSGTF #GeneticCounseling #genetics
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Looking to connect with others in genetics across NY? 🧬
Join our NYSGTF Virtual Networking Event on April 30 (6:30–7:30 PM EST)!
Students, early career, and beyond—everyone welcome.
Sign up: us06web.zoom.us/meeting/regi…
#GCChat #GeneChat #Genetics #Networking
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