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BRAIN HEALTH
BRAIN HEALTH

Hope Begins at Home: UT Health

San Antonio family starts nonprofit

for rare disease research, advocacy

By Claire Kowalick, UT Health San Antonio

or Jeremy Tanner, MD, behavioral neurologist and assistant pro-
fessor of neurology at The University of Texas Health Science
FCenter at San Antonio (UT Health San Antonio) and Glenn
Biggs Institute for Alzheimer’s and Neurodegenerative Diseases, and
Shayanne Martin, MPH, senior project manager at the Charles E.
Cheever, Jr. Center for Medical Humanities and Ethics at UT Health
San Antonio, what began as a personal journey transformed into a
global mission of advocacy to understand and research an ultra-rare
neurogenetic disease. When their daughter, Cora, was diagnosed with
a rare neurogenetic disease, it shifted their career paths and priorities in
unexpected ways. They realized the path toward real progress involved
a coordinated effort to understand and find treatments for these con-
ditions that, until recently, have remained largely unexplored.

Shared Passion for Public Health Little Cora got to come along when Dr. Jeremy Tanner and Shayanne Martin
Jeremy and Shayanne’s journey together began at Johns Hopkins attended the first NALCN conference in Spain in September 2023
University, where both were studying public health. Jeremy, a Houston
native, had been drawn to medicine after witnessing the devastating Contracture of the Limbs and Face, Hypotonia and Developmental
effects of Alzheimer’s disease on his grandmother. His career trajectory Delay. At the time, with fewer than 30 documented cases worldwide,
led him to specialize in neurology, with a focus on Alzheimer’s and there was little information available. Many children with this condition
dementia, recognizing early on the growing impact of these diseases. did not survive early childhood, and those who did required lifelong
Shayanne spent her early career working in global health, partic- care. “As first-time parents, we were devastated. We didn’t know what
ularly in infectious diseases. Her work involved securing grants and to expect going forward, or what to expect at all,” Jeremy said.
collaborating with governments and universities to improve healthcare
delivery in low- and middle-socioeconomic status countries. When the A Shift in Focus
couple moved to Texas, Shayanne’s focus shifted to community-based Faced with uncertainty, Jeremy and Shayanne immersed themselves
public health, where she leads initiatives such as training community in research, reaching out to scientists and medical experts around the
health workers. world. They discovered that CLIFAHDD is a result of a random genet-
ic mutation affecting the sodium leakage channel protein (NALCN),
An Unexpected Diagnosis which plays a crucial role in neural function. While NALCN research
In 2022, the couple was living in San Francisco where Jeremy was was advancing in Europe, there was no active work being conducted in
finishing his neurology residency and behavioral neurology fellowship. the United States. “Where Alzheimer’s disease was 20 years ago is where
The couple planned to move to Africa for a year for a global neurology the neurogenetic disease space is now. But this also means there is a huge
fellowship before accepting a faculty position in the United States. opportunity for growth and development,” Jeremy said.
Those plans changed dramatically when the couple learned they The family moved to San Antonio, where UT Health San Antonio
were expecting their first child. Initially, the only concern was a club- staff and faculty supported them both professionally and personally.
foot seen on ultrasound — which the physician said was treatable. Rec- Jeremy said prior to moving, they were able to meet with physicians at
ommended prenatal genetic testing came back normal. After Cora’s the UT Health San Antonio complex care clinic, including Cora’s cur-
birth in March 2022, however, additional features prompted the cou- rent specialist Glen Mendellin, MD, to review her care. They also met
ple to push for whole exome sequencing, a cutting-edge genetic test with neurogenetics care staff at the Texas Children’s Hospital. Jeremy
that can evaluate a range of genes at the same time and see all pro- said along with his regular duties, Sudha Seshadri, MD, director of
tein-coding portions of those genes. Whole genome sequencing has the Biggs Institute, encourages his research into NALCN-related con-
only become widely available in the past five to 10 years and was often ditions. Shayanne said the Cheever Center for Medical Humanities
only used if a genetic condition was suspected. and Ethics provides flexibility in her schedule to take Cora to medical
At six weeks old, Cora was diagnosed with an ultra-rare and severe appointments. “It was a great fit for our family; they really went above
neurodevelopmental disease called CLIFAHDD — Congenital and beyond anywhere else,” Jeremy said.

24 SAN ANTONIO MEDICINE • June 2025