Rare Disease Symposium 2021 728 x 90 digitalRS
Friday, Feb. 26
12:00 - 5:15 p.m.
Saturday, Feb. 27
8:00 a.m. to 1:30 p.m.

The University of Alabama at BirminghamChildren’s of Alabama, Alabama Rare and the Alabama Genomic Initiative will host the 8th Annual Rare Disease Genomics Symposium via Zoom on Friday, Feb. 26. and Saturday, Feb. 27. This two-day symposium will focus on science and research as well as patient advocacy. The sessions on Friday are focused for medical providers and researchers and the sessions on Saturday are focused for patients and caregivers. However, everyone is welcome to attend both days. The symposium is free. 

Agendas and registration can be found below for both days. Click on the tab for the specific day to find a link to register. 

Keynote Address

Personalized Medicine for Rare Diseases: Lessons Learned from Chasing My Cure 
David Fajgenbaum, M.D., MBA, MSc
University of Pennsylvania 


Agendas & Registration

  • Next Generation Technology to Manage Rare Diseases

    Friday, Feb. 26

    The Friday session of the Symposium is more science and research focused. This year's theme is Next Generation Technology to Manage Rare Diseases and includes a keynote address from Dr. David Fajgenbaum, sessions on telehealth, racial disparities in rare disease management, and a parent panel. See the full agenda and registration information below.

    Agenda for Friday

    • 12:00 - 12:30

      Recent innovations in genome sequencing

      Gregory Cooper, Ph.D.
      HudsonAlpha Institute for Biotechnology

    • 12:30 - 1:00

      Applying computational biology and data science methods to address needs in rare disease diagnosis and prognosis

      Elizabeth Worthey, Ph.D.
      University of Alabama at Birmingham

    • 1:00 - 1:30

      Scalable Approaches to the Provision of Genetic Counseling

      Kelly East, MS, CGC
      HudsonAlpha Institute for Biotechnology

    • 1:30 - 1:45

      Break
    • 1:45 - 2:15

      Telehealth, COVID, and Rare Disease

      Eric Wallace, M.D.
      University of Alabama at Birmingham

    • 2:15 - 2:45

      Disparities in Rare Disease Management: An Urgent Matter to Address?

      Stephen Sodeke, Ph.D.
      Tuskegee University

    • 2:45 - 3:15

      Parent Panel

      Moderator: Tammi Skelton, MSN, CRNP, NP-C

    • 3:15 - 3:30

      Break
    • 3:30 - 4:30

      Keynote

      Personalized Medicine for Rare Diseases: Lessons learned from Chasing My Cure

      David Fajgenbaum, M.D., MBA, MSc
      University of Pennsylvania

    • 4:30 - 5:15

      Virtual Cocktail Party

      Hosted by the Alabama Rare Disease Advisory Council

      Presentation of the Alabama Rare Disease Resource Manual

    Click here for full brochure.

    Registration for Friday

    Registration is free. 

    A link to the Zoom will be sent by email closer to the symposium.

    Keynote Speaker Bio

    David Fajgenbaum, M.D., MBA, MSc, FCPP

    David Fajgenbaum, M.D., MBA, MSc, FCPP

    David Fajgenbaum, M.D., MBA, MSc, FCPP, is an Assistant Professor of Medicine in Translational Medicine & Human Genetics at the University of Pennsylvania, Director of the Penn Center for Cytokine Storm Treatment & Laboratory (CSTL), Executive Director of the Castleman Disease Collaborative Network (CDCN), and Associate Director, Patient Impact for the Penn Orphan Disease Center.

    Dr. David Fajgenbaum is doing groundbreaking work to advance precision medicine for Castleman disease, a condition that he is battling as a physician, researcher, advocate, and patient. Combining omic technologies with machine learning and other bioinformatic tools, Dr. Fajgenbaum has discovered novel predictive biomarkers of treatment response and novel treatment approaches, including one that is saving his life and others. Now, he is spreading this approach to other diseases such as COVID-19.

    Speaker Bios

    Gregory Cooper, Ph.D.

    Greg Cooper, Ph.D., is a faculty investigator at the HudsonAlpha Institute for Biotechnology. His lab is interested in applying genomic technologies to better understand human disease, with an emphasis on diagnosing rare genetic conditions in children. He completed his PhD in Genetics at Stanford University in 2006 and conducted postdoctoral studies in Genome Sciences at the University of Washington until 2010 before moving to HudsonAlpha.

    Elizabeth Worthey, Ph.D.

    Elizabeth Worthey, Ph.D., has a BSc in Immunology and a MSc and Ph.D. in Quantitative and Human Genetics, respectively. The central theme across her career has been development and application of cutting-edge technologies to identify and understand molecular alterations and their impact in human disease induction, progression, outcome, and response to treatment.

    Her work is translational and clinical in scope with a large focus on molecular diagnostics in rare, mis-, or undiagnosed diseases. She has stood up and directed components within a number of molecular diagnostic labs over the last decade and she and her team undertook the very first clinical application of genomics as a clinical test in a patient with a rare GI disorder. Her teams have provided definitive diagnoses for many thousands of rare disease patients and she and clinical and wet lab colleagues have defined ~40 novel genetic disorders.

    Kelly East, MS, CGC

    Kelly East, MS, CGC, is the lead genetic counselor at the HudsonAlpha Institute for Biotechnology, where she oversees the provision of genetic and genomic counseling for research projects and clinical services, as well as the development educational experiences and resources for healthcare providers, trainees, and patients. Kelly also has prior clinical experience as a genetic counselor in an oncology setting.

    Eric Wallace, M.D.

    Eric Wallace, M.D., is a native of Alabama. He serves as the director of Telemedicine at UAB, the director of UAB Home Dialysis Program and co-director of the UAB Fabry Disease Clinic. Since becoming faculty, his research has been focused on eliminating geographic and socioeconomic barriers which prevents patients from accessing specialized care.  Primarily, he has focused on telemedicine in the provision of care in home dialysis and rare diseases such as Fabry disease, a rare genetic disease. Due to his research, he was named to the American Society of Nephrology Kidney Health Initiative that is focused on furthering the use of technologies such as telemedicine and telemonitoring to improve the care of patients on home dialysis. Currently, the UAB eMedicine program under his leadership now is able to deliver direct-to-patient, ambulatory scheduled, and inpatient care across the state.  Inpatient telehealth programs include telestroke, teleICU, telenephrology, and tele-general neurology. Dr. Wallace is passionate about home dialysis and in 2020 was named as a Councilor to the International Society of Peritoneal Dialysis.

    Stephen Sodeke, Ph.D.

    Stephen Sodeke, Ph.D., is a professor of bioethics in the College of Arts and Sciences at Tuskegee University. He is resident bioethicist at the Center for Biomedical Research. He served as associate and interim director of the National Center for Bioethics in Research and Health Care over the years, and as SGE on the DHHS Secretary Advisory Committee for Human Research Protections. He serves as the Chair of the IRB. Sodeke uses literature and art as narrative imaginations into ethical questions to teach bioethics, researches community bioethics, health and human rights, health disparities, genomics ethics, neuro-ethics, and plights of vulnerable populations.

  • A New Age of Advocacy and Coping

    Saturday, Feb. 27

    The Saturday session of the Symposium is more patient and family-focused. This year's theme is A New Age of Advocacy and Coping and includes sessions on school and work accommodations, the power of building a community, advocacy with the state legislature, and parent and advocate panels. See the full agenda and registration information below.

    Agenda for Saturday

    • 8:00 - 9:00

      Introductions and Updates

      Welcome
      Swapna Kakani

      COVID19 Update
      Paul Geopfert, M.D., Director of the Alabama Vaccine Research Clinic
      Nathaniel Erdmann, M.D., Professor, UAB Division of Infectious Diseases

      The Staging Transition for Every Patient (STEP) Program
      Carlie Stein Somerville, M.D., Medical Director of UAB STEP Program

    • 9:00 - 10:15

      Coping as an Individual and Family in this New Age

      Panel Moderated by Cristina Might

      Living with Sickle Cell Disease
      Jasmine Hightower – Sickle Cell Advocate

      Caring for a child with a rare disease
      Leah Deason – Parent Advocate of Ozzie Deason

      In Sickness and In Health
      Josh Novak, Ph.D., LMFT-S, Auburn Therapy Associates

      My Sibling has special needs
      Stephanie Stoll, Ph.D., BCBA-D, Behavioral Pediatric Institute of Alabama

    • 10:15 - 10:30

      Break
    • 10:30 - 11:00

      Advocating for School & Work Accommodations

      IEP Accommodations during COVID19
      Craig Thompson

      ADA Accommodations at work
      Julie Hill, Ph.D., Auburn University

    • 11:00 - 12:00

      The Power of Community

      Panel Moderated by Swapna Kakani

      Building a Community on Social Media
      Jessica Davenport, Founder of Kruzn for a Kure, Parent of Siblings with SIOD

      Telling Your Story and Connecting with Community Virtually
      Melissa Hogan, J.D., Founder of Project Alive, Parent of Son with MPS II (Hunter Syndrome)

    • 12:00 - 12:30

      Break
    • 12:30 - 1:30

      The Importance of State Legislative Advocacy

      Panel Moderated by Brooke Thomas

      Brooke Thomas, Parent Advocate and Director of Development & Programs for  Alabama Rare 

      Senator Jim McClendon, Chair of the Alabama State Senate Health Committee

      Andrew Burnett, Legislative Assistant for Alabama Senator Richard Shelby

    Registration for Saturday

    Registration is free. Click the button below to register for Saturday's session.

    A Zoom link will be emailed to you closer to the event.

    Speaker Bios

    Craig Thompson

    Craig Thompson is in his ninth year teaching special education and his second year as an elementary school special education teacher in Auburn City Schools. He began his career as a co-teacher with the social studies department of a Title I school district in Austin, TX working with students in grades 6-8, then worked as a middle school special education resource teacher in Eugene, OR. Craig has served as a professional development presenter, curriculum writer, and mentor teacher.

    Dr. Josh R. Novak, Ph.D., LMFT

    Dr. Josh Novak is a Licensed Marriage and Family Therapist and an Assistant Professor in the Department of Human Development and Family Science at Auburn University. His research investigates the bidirectional link between relationships and health, specifically with how couples and families manage chronic disease and illness. Clinically, he owns a private practice with his wife in Auburn where he sees individuals, couples, and families with a range of presenting relational, physical, and emotional concerns. Dr. Novak has a son with Ocular Albinism.

    Dr. Julie C. Hill, Ph.D., NCC, CRC

    Dr. Julie C. Hill is an assistant professor in the Department of Special Education, Rehabilitation, and Counseling at Auburn University. She is a National Certified Counselor (NCC) and a Certified Rehabilitation Counselor (CRC). Her research interests focus on quality of life, coping, adaptation, and adjustment to chronic illness and disability. She has a special interest in focusing on underserved populations with chronic illness and disability, such as those living with rare diseases. Additional research interests include employment, career development, career construction, and life design for individuals living with chronic illness and disability. Dr. Hill’s passion for working with individuals with chronic illness and disability comes from her own experiences as someone living with multiple chronic illnesses, including a rare disease (Ehlers Danlos Syndrome) and navigating career changes due to those conditions.

    Dr. Stephanie Stoll, Ph.D., BCBA-D

    Dr. Stephanie Stoll, co-founder of the Behavioral Pediatric Institute of Alabama, is a licensed clinical psychologist, Board Certified Behavior Analyst-Doctorate (BCBA-D), and a licensed behavior analyst. Dr. Stoll received her Ph.D. in Clinical Psychology from Auburn University.  She completed her pre-doctoral internship at the Johns Hopkins School of Medicine and the Kennedy Krieger Institute and received the majority of her post-doctoral training through the Marcus Institute. Dr. Stoll moved back to Birmingham, Alabama in 2005.  She was employed by Glenwood, Inc. and Mitchell’s Place where she provided a wide range of services to children, families, and school systems. Since going into private practice, Dr. Stoll continues to provide a range of comprehensive services for children and adolescents, including psychological evaluations, outpatient behavior therapy services, and school-based consultation services. Dr. Stoll has extensive experience working with children with autism spectrum disorders, ADHD, developmental delays, intellectual disabilities, learning disabilities, pediatric feeding disorders, anxiety, as well as other behavior and mood-based difficulties. By providing high-quality, compassionate services, Dr. Stoll strives to give families and schools a road map for intervention and hope for change.

    Jasmine Hightower, MSW

    Jasmine Hightower is an Alabama native, born and raised in Dothan, AL, and is living with sickle cell anemia. She attended Dothan High School where she was the president of the Multicultural Club, which sparked her interest in social justice work. She graduated with honors from Stillman College majoring in Psychology. While there, she was the President and Vice President of the Sigma Alpha Pi(The National Society of Leadership and Success), and a member of the Psychology Club, and was inducted into the Psychology Honor Society, Psi Chi International Honor society in Psychology. After graduation, she became an Americorps Member and it changed her life. Serving in her hometown made her realize how much we needed to change. Her Americorps inspired her to go back to school to try and help her community, especially those with rare diseases. Jasmine earned her master’s degree in social work (MSW) in 2018. After working in the field for over a year in a half, her health declined and she had to stop working. She went through a depression stage, because all she wanted to do was work. After her boyfriend passed away from medical neglect related to sickle cell anemia, Jasmine became active in the rare disease community. She lobbied on Capitol Hill in February 2020 as part of Rare Disease Week, and has been speaking out and trying to advocate for rare diseases by also working with medical companies.


Questions?

Contact Shaila Handattu at hande@uab.edu for questions about the Friday sessions.

Contact Brooke Thomas at brooke@alabamarare.org for questions about the Saturday sessions.