Happy New Year, Cure!

We hope you had a wonderful New Year’s celebration and that your 2023 is off to a great start.

If you have updates you would like to be included in next week’s newsletter, please email us at info@cureangelman.org.

FAST is excited to announce that we are sponsoring Dr. Albert Keung and his team at North Carolina State University to enable the preemptive generation of Angelman syndrome neuronal cell lines and organoids to accelerate drug discovery in Angelman syndrome.

FAST funded the development of a biorepository for all genotypes of Angelman syndrome at Yale University, including the large deletion, mutation (missense and nonsense), ICD, UPD, and mosaic.

Click here to learn more:

We are starting a new year off with a bang! 

I am thrilled to be able to introduce the community to Nycole Copping, who officially joins FAST as science director as of...right now! Nycole, who has spent the last 10 years working with preclinical models of rare neurodevelopmental disorders, will work in tandem with Allyson to manage our rapidly and robustly expanding translational research projects. “I have been a part of the AS community and FAST team throughout my graduate and post-doctoral training, mainly investigating both potential biomarkers and therapeutic efficacy of various treatments in animal models,” Nycole told me recently. “I hope to help accelerate the translational roadmap towards a cure for AS. This community is so impressive with what it has already accomplished. I am so inspired to keep the momentum going and help direct future scientific endeavors of the FAST team.” 

On behalf of everyone at FAST, we are so thrilled to welcome Nycole! Here's a bit more about her, in her own voice, but I encourage everyone to join us this Sunday, Jan 8th for our fireside chat, where you can meet and hear from both her and Meghan directly.

– Alana

Name, Title at FAST: Nycole Copping, PhD, Science Director

Tell us a bit about how you come to the world of AS: I have been a part of the AS community and FAST team throughout my graduate and post-doctoral training, mainly investigating both potential biomarkers and therapeutic efficacy of various treatments in animal models. Given my background in preclinical research and understanding of the current AS science landscape, I hope to help accelerate the translational roadmap towards a cure for AS. This community is so impressive with what it has already accomplished. I am so inspired to keep the momentum going.

How you will support FAST’s mission to a cure: A large part of my responsibilities will focus mainly on grant management and engagement with the scientific community in experimental design and planning. I will also serve as a resource for families and the AS community at large to keep everyone updated on the latest AS research. FAST’s ability to connect families, scientists, clinicians and industry partners has been exemplary and I hope to build on this foundation and communicate with the community regularly!

What did you do before FAST? I have spent the last 10 years working with preclinical models of rare neurodevelopmental disorders in Dr. Jill Silverman’s laboratory. Here I received not only my translational research formal training, but also developed an understanding of the preclinical to clinical pipeline for therapeutic development and experimental design tools to ensure expediency and effectiveness. I also presented regularly to various audiences and look forward to both applying and developing those communication skills within the AS community.

5 fun facts about you!

1. I just got married to my husband Andrew and my first official FAST event that I attended as a FAST team member was this year’s Global Science Summit in Miami which served as a precursor to our honeymoon! I couldn’t be more grateful to kick start this new chapter of my life with such an incredible community of people!
2. I have two corgis – Rodney and Roland … and would like about 100 more!
3. I love to travel. We recently went to visit family friends in Denmark and were introduced to fun Christmas traditions, honninghjerter (Danish gingerbread hearts), and pickled herring open-faced sandwiches (which were not a favorite).
4. I love horror movies and novels and am always open to any and all suggestions!
5. I am so grateful to be a part of the FAST team and the AS community and I cannot wait to hit the ground running!

Mei Baker, MD, FACMG is a professor in the Department of Pediatrics, and Director in the Newborn Screening Laboratory at the University of Wisconsin School of Medicine and Public Health.

Dr. Baker practiced medicine before being trained in both biochemical and molecular genetics, obtaining a clinical biochemical genetics certification from the American Board of Medical Genetics and Genomics in 2009. She has 15 years of experience in routine newborn screening (NBS) with specific interest in, and a successful track record of, applying emerging technologies to implement new screening tests for disorders and to improve ongoing screening tests. She is one of the leading scientists who made Wisconsin the first state in the nation and the world to implement universal NBS for severe combined immunodeficiency (SCID) in 2008. She has developed and implemented cystic fibrosis NBS using next generation sequencing technology in the Wisconsin NBS program. Dr. Baker’s contribution to science has been widely recognized, as evidenced by receiving the Harry Hannon Laboratory Improvement Award in Newborn Screening from the Association of Public Health Laboratories.

Dr. Baker served as a member of the Advisory Committee on Heritable Disorders in Newborns and Children from 2016 to 2021, and served as a member of the Newborn Screening Committee at the Association of Public Health Laboratories (APHL) from 2015-2022.  She is a council member of the International Society for Neonatal Screening (ISNS).

Click here to meet the entire Science Advisory Board:

Join Dr. Allyson Berent & Jennifer Panagoulias for their next Genes & Juice chat to talk about all things related to gene and disease modifying therapies. This is an opportunity to have a small group discussion with two members of FAST’s translational research team where personal questions and perspectives can be shared and discussed. It’s a unique experience you won’t want to miss!

What do YOU want to know related to gene therapy, cell therapy, endpoints, biomarkers, the basics of clinical trials and what you feel you need to know to make informed decisions? Send your topic requests to info@cureangelman.org. Allyson and Jennifer will prepare for an open dialogue and helpful discussion because KNOWLEDGE IS POWER.

January 2023 Genes & Juice Chat

WHEN: Tuesday, January 17th from 8:30-9:30pm EST (New York)

SIGNUP INFO: 15-person cap to maintain an intimate setting

(confirmed attendees will receive a zoom link on Fri, Jan 13th)

Click here to submit your name if you’re interested in joining this month’s Genes & Juice chat!

Following January’s Genes & Juice, the next chat will be on Tuesday, March 21st — registration will be available two weeks prior.

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