Are you or your family member diagnosed with TBX4 rare variant (mutation)?​​​​​

TBX4life Vision:

Ultimately, a Cure is found for TBX4 Syndrome

On the road to a cure, an international research continues and grows to understand better the processes related to TBX4 gene, to optimize the diagnostics and treatment approaches and to improve the quality of life of affected children and adults

Some of Our TBX4 Heroes

What's New
The first Issue of TBX4Life Newsletter is Ready!!
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Ultra-rare genetic disorder (mutation in TBX4 gene) which affects families in multiple generations and often impacts children and infants

  • Causes skeletal anomalies (like Small Patella Syndrome) leading sometimes to a joint surgery (knees, hip)
  • Causes more serious conditions which have NO CURE, such as:
    • Pulmonary Hypertension (TBX4 is the second-top cause of Heritable/Hereditary Pulmonary Arterial Hypertension)
    • Diffuse Lung Disease (e.g. chILD - Interstitial Lung Disease in Childhood) or Lethal Lung Development Disorders

:TBX4 Syndrome

Our Mission:

Foster Research

Efficient inclusive global framework is established where scientists, clinicians and families can collaborate and drive research about TBX4 together​


Educate families​​​​

And also scientific community and general public about TBX4 Syndrome and consequences



Connect families​

Affected by TBX4 Syndrome, enable access to the most recent information and increase the data which is required for the research


Raise awareness​​​​

About this ultra-rare life-threatening disease through social media and through partnership with rare disease networks and other patient advocacy organizations



Who we are:

First of all, the International Scientific Consortium with more than 30 members - 

And: 
President &
Chair of Scientific Leadership Council

Professor in Pediatrics, Vanderbilt University
Program Director “MS in Clinical Investigation
USA
  
Scientific Group Lead

Consultant in Clinical Genetics,
St George's University Hospitals NHS Foundation Trust
UK

Jeffrey Whitsett

Scientific Group Lead

Professor of Pediatrics
Chief, Division of Neonatology and Pulmonary Biology
Cincinnati Children's Hospital Medical Center
USA
  

Anton Morkin​​​​

Founder & CEO

Senior Program Manager, Research & Development, 
IT Infrastructure Expert

Father of affected child
Germany

Ripla Arora

Scientific Group Lead

Associate Professor in the Department of Obstetrics, Gynecology and Reproductive Biology within the College of Human Medicine
Michigan State University
USA
  
Secretary

Writer, Linguist

Mother of affected child
Germany
   

Tatiana Morkina​​​

Awareness & Family
Education Lead

Undergraduate in Biological Sciences
Medical Student, Patient Advocate

Affected Patient
USA

LaRae
Hacker

Director of Communications

Experienced professional in Communication, Sales & Marketing

Mother of affected child
USA

Our Partners: