The Georgia Clinical & Translational Science Alliance- Georgia CTSA and Southern California Clinical and Translational Science Institute - SC-CTSI have collaborated to provide free, high quality educational programs for clinical research professionals at novice to expert levels of experience. At the completion of each course or program, participants earn contact hours recognized by a certificate and/or badge.

Course Description:

What is the role of technological innovation in drug development for specific neurodegenerative diseases such as Huntington’s (HD)? This deep dive into HD provides an overview of applying genomics within the drug discovery process and how it relates to diagnosis, target identification, prognosis, and stratification target identification.

Course Topics:

1. Innovation in DNA Sequencing technology
   • Revolution in translation
   • Comprehensive
   • Non-invasive
   • Continuous improvement on all metrics
   • Genomics can impact drug and development at all stages
2. Huntington’s disease
   • George Huntington – movement disorder as Chorea (1872)
   • HD – inherited disease that causes progressive brain disorder
   • Clone the causal gene – linkage analysis finds the marker (1983)
   • Full gene sequence (1993)
   • Enables genetic testing, family planning and animal models
   • Inverse correlation between size and onset
3. Genomic Wide Association Studies (GWAS): Utilized to identify causal genes which modify disease onset and rate of progression
4. HD patients continue to provide the keys:
   • Identifying accelerator variants
   • Numerous genes associated with DNA
   • Modulating rates of Somatic Instability – DNA repair is flawed
   • CAG repeats: cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin gene, HTT
5. Revolution in genomics – profound impact on drug discovery
   • Diagnosis
   • Prognosis
   • Stratification
   • Target identification
   • Biomarkers
   • Therapeutic candidates
6. Beyond HD – other therapies target PCKS9 protein such as Repatha (Evolocumab) and Praluent (Alirocumab)

Speaker:

Robert Pacifici, PhD, is Chief Scientific Officer of CHDI Foundation, a private, not-for-profit research organization working to accelerate therapeutics development for Huntington’s disease. Dr. Pacifici has served as Site Director and Chief Scientific Officer at the Research Triangle ParkLaboratories of Eli Lilly where he oversaw the company's global screening and quantitative-biology efforts, and Vice President of Discovery Technologies at Xencor, a privately held biotechnology company that applied rational design principles to the development of protein therapeutics. At Amgen for nearly ten years, he held positions of increasing leadership for their automation, high throughput screening, and information technologies groups. Dr. Pacifici participates in several external boards and advisory committees including: an adjunct appointment at the USC Department of Molecular Pharmacology and Toxicology; Council member for National Institutes of Health (NIH)/National Institute of Neurological Disorders and Stroke (NINDS) from 2011 to 2014; and Panel of Experts for National Center for Advancing Translational Sciences at NIH. Dr. Pacifici previously served as Chair of the NIH/NINDS Spinal Muscular Atrophy Project's Scientific Steering Committee; Advisor to the Marigold Foundation for Myotonic Dystrophy, the Cooperative International Neuromuscular Group (CINRG), and the Center for Genetic Medicine Research at the Children’s National Medical Center (CNMC); and Member of the Science Advisory Board for Edison Pharmaceuticals, the TREAT ALS Steering Committee; the Pathogenesis of Facioscapulohumeral Muscular Dystrophy advisory board, the Spinal Muscular Atrophy Foundation Scientific Advisory Board; and the DART Rx Scientific Advisory Board. He received a BS in Biochemistry from the University of Massachusetts, Amherst, and a PhD in Biochemistry from USC. robert.pacifici@chdifoundation.org

Audience:

This symposium is designed for Clinical Research Coordinators, Project Managers, Monitors, Regulatory, Medical and Clinical Affairs Professionals, or junior faculty with three or more years of experience seeking to further develop clinical research skills and principles. Clinical research professionals should have responsibilities that include clinical trial start up planning, mentoring and complex issues involving site management, study management, and sponsor / CRO challenges.

Learner Level: Intermediate/Advanced

Learner Disclosures:

• Accreditation Status: Emory Nursing Professional Development Center (ENPDC) is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s (ANCC) Commission on Accreditation.
• Financial Relationships: ENPDC has evaluated everyone who has the ability to control content of this activity (planning committee members, subject matter experts, presenters) and found that no relevant financial relationships exist.
• Awarding Contact Hours: To obtain contact hours participants must
  • Review the entire activity
  • Pass the quiz with 100% of questions answered correctly
  • Complete the evaluation at the end
  • Certificates will be distributed at the end of the evaluation.
• Enduring Materials Dates:
  • Start Date: 06/17/2022
  • Expiration Date: 06/16/2025

Need Help with Registration? Please contact us at ene@emory.edu or 404-727-9208.

Program Information: This is the first course in a five (5) course program. To complete the entire program and earn a badge CLICK HERE.