Identifying Biomarkers for Fragile X Syndrome – A Study in Argentina

new research on biomarkers for fragile X syndrome, FLENI Institute in Buenos Aires, Argentina
Patricia Cogram, PhD, and Paulina Carullo, MD, FLENI Institute, Buenos Aires, Argentina

bio·mark·er, noun, a distinctive biological or biologically derived indicator of a process, event, or condition.

Doesn’t help?

Well, it’s perfectly clear to Argentinian researchers Patricia Cogram, PhD, and Paulina Carullo, MD, from the FLENI Institute in Buenos Aires, Argentina. They understand there is an urgent need for validated biomarkers after recent fragile X syndrome clinical trials have failed on their primary endpoints.

“Biomarkers are key to learning more about their correlation with clinical and behavioral characteristics across diverse developmental stages in fragile X syndrome,” said Dr. Cogram, the principal investigator of FRAXA’s Drug Validation Initiative (FRAX-DVI) to test preclinicaly potential compounds for FXS. “We are searching for biomarkers that could potentially be used for clinical trials for treatment in children, teenagers, and adults with fragile X.”

Cue parents. Yes, you.

Targets: your child’s cognitive, behavioral and emotional impairments

Dr. Cogram and Dr. Carullo are looking for families of children with fragile X to participate in their study to identify blood-based and neurophysiologic biomarkers. Their study will be divided into three age groups with full families: the patient mother, father, affected and unaffected siblings. If you fit this criteria, are interested in participating in the study and traveling to Buenos Aires, Argentina, email or

“This is a multidisciplinary project that works hand in hand with families,” said Dr. Carullo, who has worked in clinical research projects in Rett Syndrome and Autism Spectrum Disorders in the Infant Sibling Project at Children’s Hospital in Boston. “If it succeeds, it will be an enormous help to future clinical trials.”

Drug Validation Initiative (FRAX-DVI)

Since 2011, Dr. Cogram has received more than $350,000 from FRAXA for the Drug Validation Initiative.

“FRAXA’s support of our project is of great value to our translational research group and gives the FXS families in Latin America the opportunity to participate in the latest global research,” said Dr. Cogram, a neuroscientist working in neurodevelopmental diseases who has dedicated her entire research career to understanding and curing FXS. “Thanks to FRAXA, I participate in international biomedical research that promotes the understanding of FXS. It is a unique experience!”

Dr. Carullo, a child neurologist working in behavioral neurology with FXS patients and their families, says fragile X has profoundly changed her life.

“From the moment I met the FXS families and began working with them, my life and research aims changed drastically,” she said. “Fragile X research is intellectually challenging and highly motivating and rewarding, and helps me grow as a person.”

More on FRAX-DVI

FLENI Foundation, Buenos Aires, Argentina

More 2016 FRAXA Investigator awards

[expand title=”About the Author”]

Ted Coutilish author
Ted Coutilish and his son, Andrew

Theodore G. Coutilish is celebrating his 10th year as Associate Vice President of Marketing at Eastern Michigan University, Ypsilanti, Michigan. Coutilish has enjoyed more than two decades of higher education marketing communications leadership experience. Since 2011, he has successfully led the university’s TRUEMU marketing campaign, leading to record new student enrollment.

Over the years, his peers have recognized his work with numerous prestigious awards, including IABC Detroit’s 2012 Communicator of the Year, the chapter’s highest honor, recognizing lifelong professional communications excellence. In addition, he and his wife, Mary Beth Langan, were recognized with the 2012 Halstead-Bresnahan Family Award at the 13th Annual International Fragile X Conference, Miami, Florida, recognizing those who make a profound difference to families affected by fragile X syndrome. Coutilish was named “Distinguished Alumni in 2013” by Grosse Pointe North High School, the school’s highest honor, recognizing professional and community achievements. He lives in the City of Grosse Pointe, Michigan, with his wife, and their son, Andrew, who has Autism and Fragile X Syndrome. He earned a MA in liberal studies with a concentration in communications from University of Detroit Mercy in 1994 and a BA in print journalism in 1987 from Wayne State University. [/expand]