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Welcome to Kaycee's Corner!
Welcome to Kaycee's Corner!
Welcome to Kaycee's Corner! As a person living with multiple rare diseases, Kaycee knows what it's like to struggle to find the right care. She also knows what it's like to live with the feeling people with rare diseases are often overlooked. That's why she started this page to share news specifically for people with rare diseases which informs, engages, and helps them have hope for a brighter future. If you have news items to share with Kaycee, contact her via email at info@nysrdc.org or check out her NYSRDC page on Facebook.
Soo-Kyung and Jae Lee in the UB lab.
Soo-Kyung and Jae Lee at home with their daughter Yuna who has FOXG1 Syndrome,.
UB Researchers discover possible FoxG1 Syndrome breakthrough.
UB Researchers discover possible FoxG1 Syndrome breakthrough.
Soo-Kyung and Jae Lee, whose daughter has FOXG1 syndrome, developed gene therapy that could one day treat people with this severe neurodevelopmental disorder
Soo-Kyung and Jae Lee, whose daughter has FOXG1 syndrome, developed gene therapy that could one day treat people with this severe neurodevelopmental disorder
Originally published by Tom Dinki through the UB News Center
A drug developed at the University at Buffalo to treat FOXG1 syndrome has been cleared by the U.S. Food and Drug Administration (FDA) to begin clinical trials.
The agency approved an Investigational New Drug (IND) application for FRF-001, a viral gene therapy designed to address the underlying genetic cause of FOXG1 syndrome, a rare neurodevelopmental disorder marked by cognitive and physical disabilities and epilepsy.
FRF-001 was developed by UB biologists Soo-Kyung and Jae Lee, who oversee the FOXG1 Research Center at UB and whose daughter was born with FOXG1 syndrome.
“Reaching a clinical trial reflects the extraordinary commitment of the FOXG1 community, the families who never stopped believing and the incredible support we’ve received from UB,” says Soo-Kyung Lee, PhD, SUNY Empire Innovation Professor and the Om P. Bahl Endowed Professor in the UB Department of Biological Sciences, and director of the FOXG1 Research Center. “This clinical trial is an important step toward turning their hope into real therapies.”
FOXG1 syndrome is caused by mutations in the Forkhead Box G1, one of the most important genes for early brain development. This mutation is rare — affecting one in 30,000 individuals worldwide — but the gene has been linked to autism spectrum disorder and certain cancers, suggesting that FOXG1 therapies may be relevant for more common disorders.
The Lees have previously demonstrated that their drug can reverse some brain abnormalities in mice with FOXG1 syndrome, including in parts of the brain associated with language, memory and social interaction. It does so by delivering a functional copy of the FOXG1 gene using an adeno-associated virus 9 (AAV9) vector, making it the first FOXG1 AAV9 gene replacement therapy.
The Lees’ daughter, Yuna, was diagnosed with the disorder in 2012 at the age of 2. The couple, whose earlier research centered on master regulator genes, have since dedicated their careers to studying the disorder.
The Lee's joined UB in 2019 and launched the FOXG1 Research Center at UB in 2024 through the support of the UB Office of Research, Innovation and Economic Development, as well as the FOXG1 Research Foundation. The Lees’ development of FRF-001 has also been supported by UB’s Business and Entrepreneur Partnerships, including leading efforts to patent the drug, negotiating licensing agreements and other support services.
“As both scientists and parents of a child with FOXG1 syndrome, this milestone is deeply personal for us,” says Jae Lee, PhD, professor of biological sciences. “It brings hope not only for our daughter, but for all children and families affected by this devastating neurodevelopmental disorder.”
The upcoming first-in-human clinical trial will be conducted across multiple sites and is independently sponsored by the FOXG1 Research Foundation. The foundation has secured $14.5 million so far through its “Yes, They Can” campaign to advance FRF-001 through patient clinical trials and, ultimately, regulatory approval.
According to the foundation, this is believed to be the first instance of a parent-led rare disease nonprofit foundation independently sponsoring its own multi-site, international gene therapy clinical trial.
A view of part of the current Wadsworth Center complex in Albany.
A rendering of what the new Wadsworth Center will look like when completed.
Construction begins on Wadsworth Center Expansion
Construction begins on Wadsworth Center Expansion
Governor Hochul announces the start of a $1.7 billion expansion of the Wadsworth Center Labs in Albany
Governor Hochul announces the start of a $1.7 billion expansion of the Wadsworth Center Labs in Albany
Originally published by Spectrum News Staff on Jan. 26, 2026
Construction has begun on the $1.7 billion Wadsworth Center Laboratory on the W. Averell Harriman Campus in Albany, Gov. Kathy Hochul announced Monday, saying the public health facility will allow New York to detect, prevent and respond to emerging health threats.
The project brings the five unconnected Wadsworth labs and about 800 employees together on one 27-acre site.
Gilbane Building Company, Turner Construction Company and HOK architects designed the new five-story, 663,000-square-foot laboratory, Hochul said. Years in planning, she said it will be completed in 2030.
“The lab will allow the State to better predict and prepare for emerging threats to public health and will be one of the most authoritative public health laboratories in the country, impacting public health policy and practice at the state, national and international level,” the governor said in a statement.
The Wadsworth Center is 125 years old this year. The new center's location will allow for closer collaboration with nearby SUNY Albany and the neighboring New York State Department of Agriculture and Markets Food Laboratory.
State Sen. Pat Fahy called the project the largest public investment in the Capital Region in decades.
State Health Department Commissioner Dr. James McDonald said, the facility "will help us ensure our nation-leading public health research laboratory remains on the cutting edge of biomedical and environmental research critical to protecting public health.”
BACKGROUND - The Wadsworth Center is the research-intensive public health laboratory of the New York State Department of Health., established in 1901.Today the Wadsworth Center has over 100 principal investigators and more than 1,000 staff in five locations, the Biggs Laboratory (at the Empire State Plaza, the David Axelrod Institute on New Scotland Avenue in Albany, the Center for Medical Science, Western Avenue Albany, and the Griffin Laboratory in Guilderland, NY. Scientists at the Wadsworth Center study public health issues, such as drug resistance to emerging infections, environmental exposures, and basic biological processes that contribute to human health and disease. Additionally, as the state's public health reference laboratory, the Wadsworth Center is responsible for responding to public health threats, developing methods to detect microbes and genetic disorders, measuring and analyzing environmental chemicals, and licensing clinical and environmental laboratories. In conjunction with SUNY Albany, the Wadsworth Center has training programs for undergraduates, graduates, and postdoctoral fellows.Additional renderings of the new construction can be seen here.
NYS DOH Publishes Congenital Cytomegalovirus Newborn Screening Study in JAMA
NYS DOH Publishes Congenital Cytomegalovirus Newborn Screening Study in JAMA
Study shares the results of a landmark one-year pilot study to screen every infant born in NYS for Congenital Cytomegalovirus (cCMV).
Study shares the results of a landmark one-year pilot study to screen every infant born in NYS for Congenital Cytomegalovirus (cCMV).
Originally published 2/26 on the NYS Department of Health website
In October 2023, the New York State Newborn Screening Program launched a landmark one-year pilot study to screen every infant born in the state for congenital cytomegalovirus (cCMV). The results of this study, funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, were recently published in JAMA Network Open, confirming the feasibility of using dried blood spots for large-scale cCMV screening. While cytomegalovirus is common and often harmless in most people, infection in utero can lead to severe complications. It is the leading cause of nonhereditary childhood hearing loss and can result in microcephaly, visual impairment, and seizures.
The program utilized quantitative polymerase chain reaction (qPCR) to analyze dried blood spots from approximately 208,000 newborns. The screening identified several key data points regarding the prevalence of CMV infection and treatment for cCMV:
Screening Results: 529 newborns (1 in 393) screened positive, referred for specialty care.
Confirmed Diagnoses: 276 infants were confirmed to have cCMV (1 in 755).
Clinical Presentation: Among the confirmed cCMV cases, 24.6% were symptomatic, 71.4% were asymptomatic, and 4.0% presented with isolated hearing loss.
Treatment: Notably, 70.6% of symptomatic infants received antiviral medication. Many were treated as a direct result of early detection by newborn screening.
The study successfully demonstrated that universal screening allows families to access subspecialists early, which could lead to improved developmental and hearing outcomes. However, the pilot also identified challenges to implementation of universal cCMV screening, including the high frequency of detecting postnatally-acquired CMV (which is less severe than congenital infection), false-positive and false-negative results, and the complexities of managing long-term follow-up for infants who are asymptomatic at birth but may be at risk for later-onset developmental issues or hearing loss.
For more on the NYS Dept. of Health Newborn Screening Program CLICK HERE
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