McConnell, Alice

Speaker Information
First Name
  Alice
Last Name
  McConnell
Email
  [email protected]
Phone
  (512) 913-0738
Organization
  Speragen, Inc
Job Title
  CEO
Credentials
  Texas Professional Engineer (retired), Rare Disease Company Founder, Caregiver of 2 Zebras
As we develop programs and resources to empower our diverse community, we ask participants to select the response that best reflects their race and or ethnicity:
  White (Non-Hispanic)
What rare disease(s) do you represent?
  Succinic Semialdehyde Dehydrogenase Deficiency
How many years have you been involved with rare diseases?
  10+ years
Biography
  Ms. McConnell is a Civil Engineer whose life changed when her two young children were both diagnosed with a rare inborn error of metabolism, succinic semialdehyde dehydrogenase deficiency, SSADHD. At the time there was basic research going on for the disorder, but no plan to commercialize a therapy. At the time she was managing large highway projects so she took a career change and co-founded Speragen, Inc. Speragen is dedicated to improving diagnostics and providing therapies for SSADHD. One of Speragen's guiding principles is to share our learnings along the way to help other rare disease communities save time and resources. Speragen was founded in 2015 and was continuously funded by NIH STTRs until 2021 when they were able to out-license their lead candidate to fully fund the company. Along the way, they have been able to receive an ICD-10 code, initiate an ongoing natural history study, identify over 150 disease-causing pathogenic variants, published the SSADHD prevalence study, pre-IND & IND meetings, obtain orphan drug status, conduct the EL-PFDD meeting, develop the Voice of the Patient Report, develop the newborn screening assay for SSADHD multiplexed with eight other rare disorders not currently screened for, and are in process of developing the SSADHD clinical outcome assessment. All along the way helping other rare disorders find their footing.
Please upload your headshot
 

Travel Distance from Los Angeles, CA:
  I live in Austin, TX most of the year – 1,400 miles away. Happy to travel though.
Presentation Information
Proposed Presentation Title
  Ending the Odyssey – A Call to Modernize Newborn Screening
Presentation Summary
  I would like to present on how modernizing newborn screening is the key to ending the diagnostic odyssey, preventing inequities in rare diseases, spurring innovation, and developing much needed therapies.

The criteria for NBS were presented by Wilson and Jungner in 1968 to the World Health Organization but previously published in 1965. The screening requirements have remained almost unchanged since then. Interesting to note that in the paper to the WHO Wilson and Jungner specifically say they have not included the practice of early disease detection in the maternity or child welfare field, it is intended for chronic disease in adults, and it is an incomplete picture of the complex and rapidly changing field of medicine. Furthermore, it is presented to spur conversation and to develop as needed. Today though we are still using these criteria that were never intended for childhood disorders or to remain stagnant over time.

I want to frame the world of when the criteria were established versus the values and ethics we now have.

Since 1968 we have passed: The Rehabilitation Act of 1973 (Section 504), Developmental Disability Assistance and Bill of Rights Act of 1975, Education for All Handicapped Children Act of 1975, IRBs in the United States Regulations for the protection of human subjects for DHHS, published in 1974, Civil Rights of Institutionalized Person Act 1980, Mental Illness Bill of Rights Act 1985, Americans with Disabilities Act 1990, Developmental Disabilities Assistance and Bill of Rights Act of 2000, Individuals with Disabilities Education Act (IDEA) 2004, Genetic Information Nondiscrimination Act of 2008, and others. Our laws, values, and ethics are very different than they were in 1968, yet the criteria remain the same.

Then I would like to propose some solutions to the current problems in the NBS programs along with Wilson and Jungner's original intent to dismiss "dogma…[in the] hope this may serve to stimulate discussion, since, in the end, real development depends on an exchange of views."

Have you spoken previously for NORD?
 

  • No

Have you previously spoken at any rare disease events or are you planning to speak at any upcoming events within the next year?
 

  • Yes

If yes, please list the name and dates of your speaking engagements .
  Rare Disease Day Austin (2/29), World Orphan Drug Congress (4/25)
Please provide up to 3 examples of previous presentation experience, include links to videos if applicable.
  Ms. McConnell has spoken at biotech start up conferences, women's leadership conferences, patient advocacy and rare disease events, and more. She enjoys telling complex stories in an easy to understand way. Always trying to present to the audience in a new and engaging way. Please find her 2020 rare disease day, 73 Questions on SSADHD, presentation here: https://www.youtube.com/watch?v=kI2YRy5y56w
Target Audience:
  Those that have experienced the diagnostic odyssey and want to advocate for a better way in the future.
Those who are struggling to initiate or fill their natural history/clinical studies because of the lack of diagnosed patients.
Those interested in healthcare ethics and stemming inequities.
Those interested in programmatic changes in fundamental systems.
Those interested in developing advocacy at a system wide level.
Learning Outcomes:
  Look at the source – we often operate on what we hear from others. We need to make sure we return to the source of an idea or fact to understand a basis.
The power of community to effect change.
Discard dogma – we don't need to be bound or held back by entrenched beliefs.
Consent
  As a potential speaker for the Living Rare Living Stronger Patient and Family Forum I agree: