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To Register to the Conference - go to its Main Page​​
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\n\n
TBX4Life / TBX4 Syndrome Scientific Conference 2026 – San Francisco
\n\n \n \n \n\n
Day 1 – March 17, 2026
\n
\n Time: 8:30 AM – 7:00 PM (PST)  | \n Venue: AMA Conference Center, San Francisco Marriott Marquis\n
\n\n \n
\n
8:30 AM
\n
\n
WELCOME & OPENING
\n
Greetings, Set the Stage
\n

Anton Morkin — Founder & CEO, TBX4Life (Germany)

\n

Eric D. Austin, MD, MSCI — Vanderbilt University Medical Center, USA

\n

Ripla Arora, PhD — Michigan State University, USA

\n
\n
\n\n \n
Block 1 – Patient Cases, Primary Phenotypes & Research Insights
\n
\n Moderators:\n \n Mary Mullen, MD, PhD (Boston Children’s Hospital & Harvard Medical School, USA)  • \n Ripla Arora, PhD (Michigan State University, USA)\n \n
\n\n
\n
8:40 AM
\n
\n
PHENOTYPE 1: Stong DLD - pediatric onset: Clinical Phenotype / Cases overview
\n
Pediatric-Onset TBX4-Associated Developmental Lung Disease: Defining a Severe Clinical Phenotype.
\n

Nidhy Varghese, MD

\n

Texas Children’s Hospital & Baylor College of Medicine, USA

\n
\n
\n\n
\n
8:55 AM
\n
\n
RESEARCH SESSION 1
\n
Both Blueprint and Scaffold: How the Basement Membrane Informs the Development and Regeneration of the Lung
\n

Nick Negretti, PhD

\n

Vanderbilt University Medical Center, USA

\n
\n
\n\n
\n
9:15 AM
\n
\n
RESEARCH SESSION 2
\n
Endothelium as an Architect: Capillary Fate Decisions Shape the Developing Lung Mesenchyme
\n

Cristina Alvira, MD

\n

University of California San Francisco, USA

\n
\n
\n\n \n
\n
9:35 AM
\n
\n
Discussion
\n
\n
\n\n
\n
9:45 AM
\n
\n
PHENOTYPE 2: Stong PH - pediatric onset: Clinical Phenotype / Cases overview
\n
Pediatric-Onset TBX4-Associated Pulmonary Hypertension: Clinical Spectrum and Representative Cases
\n

Mary Mullen, MD, PhD

\n

Boston Children’s Hospital & Harvard Medical School, USA

\n
\n
\n\n
\n
10:00 AM
\n
\n
RESEARCH SESSION 3
\n
TBX4 and Converging Pathways in Pulmonary Hypertension
\n

Marlene Rabinovitch, MD

\n

Stanford University School of Medicine, USA

\n
\n
\n\n
\n
10:20 AM
\n
\n
RESEARCH SESSION 4
\n
Probing a Lung Specific Model of TBX4-related Pulmonary Hypertension
\n

Lea Steffes, MD

\n

Stanford University / Lucile Packard Children’s Hospital, USA

\n
\n
\n\n \n
\n
10:40 AM
\n
\n
Discussion
\n
\n
\n\n \n
\n
10:50 AM
\n
\n
Coffee Break
\n
\n
\n\n
\n
11:10 AM
\n
\n
PHENOTYPE 3: Adult PH onset & Skeletal: Clinical Phenotype / Cases overview
\n
Adult-Onset TBX4 Syndrome: Clinical Spectrum and penetrance
\n

Matina Prapa, MD

\n

Royal Brompton Hospital & Imperial College London, UK

\n
\n
\n\n
\n
11:25 AM
\n
\n
RESEARCH SESSION 5
\n
iPSCs in rare genetic diseases (PAH and HHT) for drug discovery and testing
\n

Edda Spiekerkoetter, MD

\n

Stanford University School of Medicine, USA

\n
\n
\n\n
\n
11:45 AM
\n
\n
RESEARCH SESSION 6
\n
Diffuse Developmental Lung Disease: What's New?
\n

Csaba Galambos, MD, PhD

\n

University of Colorado Anschutz Medical Campus & Children’s Hospital Colorado, USA

\n
\n
\n\n \n
\n
12:05 PM
\n
\n
Discussion
\n
\n
\n\n \n
\n
12:15 PM
\n
\n
Lunch in Lobby (Provided)
\n
\n
\n\n
\n
1:15 PM
\n
\n
Community of Impacted Families - A Story and an Ask
\n

Enrique Carazzo, FCHP (recorded video + translation)

\n

and Summary from Monday's Families/Scientists panel discussion

\n
\n
\n\n \n
Block 2: TBX4 & Around
\n
\n Moderators:\n \n Steven H. Abman, MD\n (University of Colorado Denver Anschutz School of Medicine; Children’s Hospital Colorado, USA)\n  • \n Tanya Kalin, MD, PhD\n (Phoenix Children’s Research Institute / University of Arizona College of Medicine – Phoenix, USA)\n \n
\n\n
\n
1:40 PM
\n
\n
RESEARCH SESSION 7
\n
Use of WGS and DNA methylation signatures for the diagnosis of PAH: Role in TBX4
\n

Jair Tenorio, PhD

\n

INGEMM, Hospital Universitario La Paz; IdiPAZ; CIBERER, Spain

\n
\n
\n\n \n
\n
2:05 PM
\n
\n
Discussion
\n
\n
\n\n
\n
2:10 PM
\n
\n
RESEARCH SESSION 8
\n
An induced pluripotent stem cell-derived model to understand lung mesenchyme development and TBX4-associated respiratory disease
\n

Andrea Alber, PhD

\n

Pulmonary Center & Center for Regenerative Medicine, Boston University, USA

\n
\n
\n\n \n
\n
2:35 PM
\n
\n
Discussion
\n
\n
\n\n
\n
2:40 PM
\n
\n
RESEARCH SESSION 9
\n
Fish lessons: discovering candidate pathways and cell types affected by Tbx4 loss
\n

Christian Mosimann, PhD

\n

University of Colorado Anschutz Medical Campus, USA

\n
\n
\n\n \n
\n
3:05 PM
\n
\n
Discussion
\n
\n
\n\n \n
\n
3:10 PM
\n
\n
Coffee Break
\n
\n
\n\n
\n
3:30 PM
\n
\n
ABSTRACT \"FLASH TALKS\" SESSION with a panel discussion
\n
Abstract \"Flash Talks\" Session with a panel discussion
\n

Approved Abstract Submitters

\n

Various (Clinical and Translational)

\n
\n
\n\n \n
\n
4:50 PM
\n
\n
Wrap-up
\n
\n
\n\n \n
\n
5:00 PM
\n
\n
TBX4Life Mixer (Networking Event & Drinks/Snacks)
\n

5:00 PM – 7:00 PM

\n
\n
\n\n \n \n \n\n
Day 2 – March 18, 2026
\n
\n Time: 8:30 AM – 8:00 PM (PST)  | \n Venue: AMA Conference Center, San Francisco Marriott Marquis\n
\n\n \n
\n
8:30 AM
\n
\n
WELCOME & OPENING
\n
Greetings and set the stage
\n

Eric  |  Anton  |  Ripla

\n
\n
\n\n \n
Block 1: Cure TBX4: Drug Screening/Repurposing & Drug Development
\n
\n Moderators:\n \n Eric D. Austin, MD, MSCI\n (Vanderbilt University Medical Center, USA)\n  • \n Mauro Lago Docampo, PhD\n (Postdoctoral Scholar in Cardiology, Department of Pediatrics, Stanford University School of Medicine, USA)\n \n
\n\n \n
\n
8:40 AM
\n
\n
KEYNOTE PRESENTATION
\n
Untangling the roles of BMP, activin, and TGF-beta signaling in PAH
\n

Paul Yu, MD, PhD

\n

Brigham and Women’s Hospital & Harvard Medical School, USA

\n

\n Insights from human genetics, cellular and animal models, developmental biology, and clinical trials\n

\n
\n
\n\n \n
\n
9:10 AM
\n
\n
Discussion
\n
\n
\n\n \n
\n
9:20 AM
\n
\n
RESEARCH SESSION 1
\n
Screening of FDA-approved drugs for TBX4 activators
\n

Vladimir (Vlad) Kalinichenko, MD, PhD, Prof

\n

Phoenix Children’s Research Institute & University of Arizona College of Medicine – Phoenix, USA

\n
\n
\n\n \n
\n
9:45 AM
\n
\n
Discussion
\n
\n
\n\n \n
\n
9:50 AM
\n
\n
RESEARCH SESSION 2
\n
Lung mesenchymal cell heterogeneity: proximodistal populations along three axes
\n

Jichao Chen, PhD, Prof

\n

Cincinnati Children’s Hospital Medical Center, USA

\n
\n
\n\n \n
\n
10:15 AM
\n
\n
Discussion
\n
\n
\n\n \n
\n
10:20 AM
\n
\n
Coffee Break
\n
\n
\n\n \n
\n
10:40 AM
\n
\n
RESEARCH SESSION 3
\n
Cell and gene therapies for genetic diseases
\n

Bernard Thébaud, MD, PhD, Prof

\n

University of Ottawa; Ottawa Hospital Research Institute; CHEO Research Institute, Canada

\n
\n
\n\n \n
\n
11:05 AM
\n
\n
Discussion
\n
\n
\n\n \n
\n
11:10 AM
\n
\n
ROUND TABLE DISCUSSION
\n
Drug Screening & Drug Development - Next Steps Round Table Discussion
\n

Moderated by Ripla Arora, PhD

\n
\n
\n\n \n
\n
12:00 PM
\n
\n
Lunch on your own (not provided)
\n
\n
\n\n \n
Block 2: Optional/Workgroup Sessions
\n\n
\n
1:30 PM
\n
\n
Workshop
\n
TBX4 Research Workshop
\n
\n
\n\n
\n
5:00 PM
\n
\n
Joint reception with PPHNet (details later)
\n

5:00 PM – 8:00 PM

\n
\n
\n\n
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