@NYSGenTaskForce

New York State Genetics Task Force

 New York, NY
Joined August 2018
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Save the date! Our next #NYSGTF meeting is Nov 18 📍 Mount Sinai, Manhattan. Right after #NSGC — hope to see you there! #genetics #GeneticCounseling #genechat #nyc
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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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OGM sits right at the intersection of our tools: Karyotype: broad overview, low resolution FISH: highly sensitive, but targeted CMA: great for CNVs, but misses balanced events OGM can capture aneuploidies, CNVs, translocations, inversions, and rearrangements in one assay.
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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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For families facing early‑onset retinal disease the message from Dr. Levin’s work is hopeful: Open‑access vectors Not‑for‑profit pricing International training & delivery If it succeeds, this model could reshape how genetic eye diseases are treated worldwide.
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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: [email protected] #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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