New York State Genetics Task Force

New York State Genetics Task Force

[New York State Genetics Task Force @NYSGenTaskForce]

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

[New York State Genetics Task Force @NYSGenTaskForce]

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

[New York State Genetics Task Force @NYSGenTaskForce]

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”

[New York State Genetics Task Force @NYSGenTaskForce]

"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

[New York State Genetics Task Force @NYSGenTaskForce]

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.

[New York State Genetics Task Force @NYSGenTaskForce]

Next we will here from Dr. Anwar Iqbal on how Optical Genome Mapping enables Next-Generation Cytogenetics

[New York State Genetics Task Force @NYSGenTaskForce]

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

[New York State Genetics Task Force @NYSGenTaskForce]

From ‘no diagnosis’ to clear answers: episignature testing is helping resolve tough cases with:
-Undiagnosed neurodevelopmental disorders
-Suspected imprinting conditions
-Overgrowth/undergrowth syndromes
#RareDisease

[New York State Genetics Task Force @NYSGenTaskForce]

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

[New York State Genetics Task Force @NYSGenTaskForce]

Next we will here from Lexi Hubbel, MS, CGC on Methylation Episignature Testing: A diagnostic tool for VUS resolution and undiagnosed rare disease

[New York State Genetics Task Force @NYSGenTaskForce]

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.

[New York State Genetics Task Force @NYSGenTaskForce]

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

[New York State Genetics Task Force @NYSGenTaskForce]

There however are political, financial, and sociological barriers that keep this from being available to everyone that it could potentially be helpful for.

[New York State Genetics Task Force @NYSGenTaskForce]

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: https://t.co/JzYSwYvkNu

[New York State Genetics Task Force @NYSGenTaskForce]

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: https://t.co/JzYSwYvkNu

Agenda below ⬇️
#genetics #NYSGTF #genechat

[New York State Genetics Task Force @NYSGenTaskForce]

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

[New York State Genetics Task Force @NYSGenTaskForce]

⏰ Reminder: NYSGTF Grant applications close August 15th!
Supporting DEI initiatives in genetics/genomics
Must be enrolled/employed/reside in NY.
Apply before Aug 15: https://t.co/Z2orfOiGff
#genetics #NYSGTF #genechat #nys

[New York State Genetics Task Force @NYSGenTaskForce]

📅 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: https://t.co/hJQTyDx3By #NYSGTF #GeneticCounseling #genetics

[New York State Genetics Task Force @NYSGenTaskForce]

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: https://t.co/ZGWEKfwWEg

#GCChat #GeneChat #Genetics #Networking