The 2016 FTD Caregiver Conference began with morning talks to help caretakers better understand their loved one’s condition. These presentations highlighted our Center’s ongoing research on frontotemporal degeneration, primary progressive aphasia, amyotrophic lateral sclerosis, corticobasal degeneration, and progressive supranuclear palsy.

Morning Research Talks

The first talks featured Dr. Murray Grossman from the Penn FTD Center, Dr. Lauren Elman from the Penn Comprehensive ALS Center, and Dr. Branch Coslett from the Penn Neuroscience Center, who gave an overview of what we currently know about FTD-spectrum disorders. The speakers discussed the different characteristics and symptoms associated with different FTD disorders as well as the latest research that investigates the underlying genetic and biological causes. Through better understanding of the biological processes that lead to and accelerate neurodegeneration, scientists can develop new treatments that target the specific mechanisms of disease. Finally, Dr. Grossman discussed the encouraging efforts of the important new NIH BRAIN Initiative spearheaded by President Barack Obama, whose goal is to develop effective treatments for neurodegenerative diseases by 2025.

Later in the morning, Drs. Corey McMillan and David Irwin talked about the diversity of the clinical symptoms of FTD and its associated genetic and biological causes. Because FTD disorders can vary so much from patient to patient, it is crucial that clinicians have better diagnostic tools to correctly distinguish between different FTD subtypes. Both speakers discussed how imaging and biomarkers can be used as noninvasive techniques to help clinicians make more precise diagnoses. Analyses of brain tissue collected through our brain donation program also allow our researchers to better characterize and understand the underlying differences between FTD subtypes. Improvement in distinguishing between FTD subtypes is crucial to both clinical treatment and research for many reasons. First, lumping together different FTD subtypes can muddy the data and make interpretation difficult. Thus, specific diagnoses are important to improving research about the nature and causes of FTD. Second, improved subtype diagnosis allows for more specific entry into clinical trials. This allows scientists to work to develop new treatments that specifically target each implicated cause. Finally, proper care and treatment of each individual patient depends on the ability to correctly identify the specific variant of FTD, which can lead to improved outcomes for patients with FTD.

Beth Wood, MS, LCGC is a certified genetic counselor who spoke about how specific genes can influence an individual’s risk for developing FTD. She explained that our genes are responsible for making proteins, and that a change (mutation) in a gene can cause the resulting protein to change or malfunction in some way. The children or granchildren of patients may also inherit the mutated form of a gene, and therefore be at higher risk of developing FTD. Wood also discussed the most common genetic causes of FTD, including mutations in the C9orf72, progranulin, and tau genes, and the availability of genetic testing procedures. Genetic testing can help caregivers understand the underlying cause of their loved one’s disease, and can be performed in unaffected individuals to help predict if they are at risk of developing FTD. Finally, Wood emphasized that genetic research is still a growing field, and there are likely other genes that can influence an individual’s risk for FTD. Understanding the underlying genetics of FTD is an ongoing process which can help researchers identify new therapies targeting the proteins made by those genes.

The morning concluded with special guest speaker, Dr. Jaime Reilly of Temple University. Dr. Reilly, who completed his post-doctoral training with the Penn FTD Center, highlighted how proper diagnoses are important, not just for drug treatments, but also for targeted behavioral interventions. Many common techniques designed to help manage language impairment after a stroke or trauma are best suited for situations where damage to the brain is typically localized and doesn’t spread over time. This is different from neurodegeneration, where increasing degeneration means that new language systems can become compromised over time. Dr. Reilly has worked to develop new treatment methods that are specifically effective for the different variants of primary progressive aphasia, and that are designed to protect and maintain a patient’s language ability as disease progresses. By continuously practicing a specific set of picture-based items that are commonly used in everyday activities, the patient is able to maintain a higher degree of communicative independence in the later stages of disease.

Our ongoing work and involvement in new initiatives are only made possible through a combination of philanthropic support and through the efforts of those who participate in ongoing research. Without your participation, it is impossible for us to learn more about the biology underlying your loved one’s conditions and develop potential new therapeutic treatments. We would like to wholeheartedly thank you for your continuing support of our research here at the Penn FTD Center.

If you missed the Conference or would like to watch the sessions again, click on the presenter’s names above to access them.  The full library of videos from the 2016 FTD Caregiver Conference can be found in the Center’s Media Library. For more information on the genetics of FTD, visit Thank you once again for your interest and support.