“Defects of the head and neck are some of the most common malformations observed at birth,” said Fantauzzo. “Through expanding research, we can better understand the physiological causes behind these defects and work to develop new treatments, specifically for cleft lip and palate.”
The Fantauzzo laboratory recently showed that Srsf3, a protein that binds RNA, is required for proper craniofacial development in mammals. Here, the group will explore how the activity of Srsf3 is regulated in cells that give rise to the facial skeleton, and how dysregulation of Srsf3 activity can lead to facial clefting.
These studies have the potential to provide significant insight into the mechanisms underlying gene expression regulation during craniofacial development, which will ideally lead to new treatment options for birth defects such as cleft lip and palate.
Fantauzzo said, “This award will significantly expand a relatively new research theme in my laboratory by allowing me to recruit new trainees and invest in cutting-edge, mechanistic experiments that explore the role of post-translational modifications in regulating RNA-binding protein activity.”
Forman’s grant entitled “Investigating Srsf3-mediated alternative RNA splicing in craniofacial development” received a perfect score from reviewers.
“This award fellowship is an affirmation of my past mentorship that has allowed me to succeed, my continued excellent mentorship under Dr. Fantauzzo, and the potential that they see in me as a future investigator running a research lab.”
Forman’s immediate goals involve completing his PhD in Molecular Biology and moving toward his MD completion. His goal is to become an independent clinician-scientist in the field of craniofacial biology. His research interests revolve around understanding how cell signaling mechanisms control gene expression changes to ultimately affect tissue organization, and how disruption of these mechanisms lead to common congenital diseases such as cleft lip and palate.
NIDCR Ruth L. Kirschstein NRSAs support mentored training in biomedical, behavioral and clinical research for predoctoral and postdoctoral fellows dedicated to solving problems in oral, dental, and craniofacial health.
Her grant entitled “Functions of PRDM Histone Methyltransferases during Cartilage Development in the Craniofacial Skeleton,” is an in-depth look at a cellular level of the mechanisms of cartilage formation.
Shull is continuing her work to investigate the mechanisms controlling how certain genes are turned on or off during the development of the craniofacial skeleton.
"By understanding these factors during normal development, we can better understand how genetic mutations or disruptions during these critical stages of facial development lead to craniofacial birth defects in humans such as cleft lip and palate," explained Shull.
With this award, Shull is also part of the Maximizing Opportunities for Scientific and Academic Independent Careers (MOSAIC) program.
“As a first-generation college graduate from a small town in rural New Mexico, I recognize the barriers trainees from disadvantaged backgrounds face while pursuing scientific careers. I am committed to mentoring and supporting underrepresented students as they pursue their scientific interests and navigate careers in science.”
The Maximizing Access to Research Careers (MARC) Undergraduate Student Training in Academic Research (U*STAR) Award will pay for sixty percent of Jaime’s CU Denver tuition, an academic year stipend, a summer stipend, money to support travel to academic conferences, and room and board for out-of-state summer research experiences.
“I am thankful that I can do what I love and be paid to do it,” said Jaime. “Because of the MARC program I can continue my career, but also advance the science that will eventually help others suffering from craniofacial diseases.”
Jaime is a craniofacial biology student research assistant with CU School of Dental Medicine Craniofacial Biology Assistant Professor James Nichols, PhD. He is majoring in integrative biology on a pre-medical track, with plans to pursue a dual MD/PhD degree in a Medical Scientist Training Program (MSTP).
The MARC program, funded by the National Institute of General Medical Sciences (NIGMS), is designed to teach undergraduate students from underrepresented backgrounds in the biomedical and behavioral sciences to be nationally competitive for PhD and MD/PhD programs once they graduate.
Jeremiah Ramos, program manager in the Office of Inclusive Excellence in STEM, said, “We are very excited to have the opportunity to work with Julio. He impressed us with both his written application and his interview to join the MARC program. He was knowledgeable about his research and will continue to work with Dr. Nichols to develop an independent project in the next year.”
Jaime is equally excited for this opportunity and has already begun to work on his independent project, looking at the impact of deleting a gene sequence associated with frontonasal dysplasia type 1 (FND-1). FND-1 is a rare, non-lethal genetic disorder caused by abnormal development of the head and face before birth. Jaime’s research will attempt to understand how this deletion impacts the long-term effects of craniofacial development, specifically as it relates to frontonasal dysplasia.
Understanding the underlying abnormalities associated with craniofacial development could potentially pave the way for future treatments associated with FND-1 and various other diseases.