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BRAIN HEALTH

Looking to the Future
The next major milestone will be the second international NALCN
conference, set to take place in October 2025 in San Antonio. This
gathering will bring together families, researchers and clinicians to
share the latest findings and launch a natural history study — an essen-
tial step for future clinical trials. “In order to test a treatment, you have
to see the natural course of the disease and how treatment changes that
course,” Jeremy said.
Despite the demands of leading a nonprofit while raising a child
with special needs, Jeremy and Shayanne remain deeply committed to
their professions. Shayanne balances her role as executive director of
the Channeling Hope Foundation with her professional responsibilities
while also pursuing a doctorate in public health. She credits the sup-
port of her colleagues at the Charles E. Cheever, Jr. Center for Medical
Humanities and Ethics for enabling her to continue her work. “For me,
it’s the support system,” she said. “Being given that flexibility and free-
Shayanne Martin holds the family’s second child, Willow, who was born in dom to pursue this work has enabled me to stay in the workforce.”
January, while sitting with Dr. Jeremy Tanner and Cora. As advancements in genetic testing and treatments develop, the
landscape for rare disease research is evolving rapidly. More widespread
The Birth of Channeling Hope Foundation availability of whole exome sequencing has made it possible for rare
Jeremy and Shayanne realized that the best way to advocate for genetic conditions to be discovered sooner and correctly diagnosed.
more research and treatment development for CLIFAHDD and other “This space is growing fast,” Jeremy said. “More diseases are being diag-
ultra-rare conditions would be to create a focused nonprofit organiza- nosed, and with better genetic testing, we’re identifying conditions
tion. “The only way to develop a treatment is to have a strong patient that were previously misclassified. The capabilities of UT Health San
advocacy organization and nonprofit bring together the resourc- Antonio provide a great opportunity for us to become leaders in the
es, raise funds, bring communities together and bring the scientists space of ultra-rare diseases.”
together,” Jeremy said. The couple welcomed their second child in January. At the UT
In 2023, they co-founded the Channeling Hope Foundation Health San Antonio obstetrics and gynecology center, the genetic coun-
along with other parents of children with ultra-rare diseases. The seling team conducted whole exome sequencing prenatally and con-
organization’s mission is to unite families, scientists and clinicians firmed that the child did not carry the CLIFAHDD mutation. “Here,
to advance research and treatments for CLIFAHDD and other the genetic counselor listened to us. She said, ‘I’ll advocate for you.’ At
NALCN-related conditions. With no prior experience in nonprofit the lab she explained that there was a reason [for the sequencing test].
management, the couple quickly learned how to navigate the This is a new space in science and medicine. The sooner you know, the
new challenges of fundraising and a new direction for their prior sooner you can prepare and consider treatment options,” Shayanne said.
experiences in advocacy, scientific collaboration and capacity building. With unwavering determination, Jeremy and Shayanne are proof
At the first international NALCN conference in Spain, the couple that when families and scientists work together, there is hope for even
connected with researchers who had already developed disease models. the rarest diseases. Their journey shows what is possible when science,
These collaborations created the groundwork for potential treatments, collaboration and determination come together.
including drug repurposing to identify existing Food and Drug Adminis-
tration-approved medications that may help patients with CLIFAHDD.

A Growing Movement
The Channeling Hope Foundation has rapidly expanded its net-
work, engaging families and scientists worldwide. With support from
the Chan Zuckerberg Initiative Rare As One Network, the foundation
recently secured $800,000 in funding over the next five years. While
this funding is not for research, it provides critical support for organi- Learn more about the Channeling Hope Foundation
zational growth and capacity building. at https://www.channelinghope.org/
On the research front, Jeremy is working with UT Health San
Antonio scientists at the Center for Innovative Drug Discovery and Claire Kowalick is a science writer and senior public relations
international collaborators to develop the first high-throughput specialist with The University of Texas Health Science Center
screening and drug discovery program for NALCN-related condi- at San Antonio. She is a graduate of the University of North
tions. He is also working with Baylor College of Medicine scientists to Texas. As a science writer, she combines her passion for writing
develop the first induced pluripotent stem cell line as an open resource with a deep appreciation of biomedical science to tell people about the
for the scientific community to study these conditions and to begin to groundbreaking research and novel discoveries happening at South Texas’
develop genetic therapies. largest academic research institution.
Visit us at www.bcms.org 25