Are you or your family member diagnosed with TBX4 rare variant (mutation)?
Are you or your family member diagnosed with TBX4 rare variant (mutation)?
TBX4life Vision:
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
Some of Our TBX4 Heroes
What's New
The first Issue of TBX4Life Newsletter is Ready!!
Check here: Other Relevant Resources
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
- Pulmonary Hypertension (TBX4 is the second-top cause of Heritable/Hereditary Pulmonary Arterial Hypertension)
:TBX4 Syndrome
Our Mission:
Our Mission:
Foster Research
Foster Research
Efficient inclusive global framework is established where scientists, clinicians and families can collaborate and drive research about TBX4 together
Educate families
Educate families
And also scientific community and general public about TBX4 Syndrome and consequences
Connect families
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
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:
Who we are:
First of all, the International Scientific Consortium with more than 30 members -
check TBX4Life Scientific Team page
And:
Jeffrey Whitsett
Jeffrey Whitsett
Scientific Group Lead
Professor of Pediatrics
Chief, Division of Neonatology and Pulmonary Biology
Cincinnati Children's Hospital Medical Center
USA
Anton Morkin
Anton Morkin
Founder & CEO
Senior Program Manager, Research & Development,
IT Infrastructure Expert
Father of affected child
Germany
Secretary
Writer, Linguist
Mother of affected child
Germany
Tatiana Morkina
Tatiana Morkina
Read more about research opportunities and why is TBX4 research attractive and valuable.
LaRaeHacker
LaRae
Hacker
Director of Communications
Experienced professional in Communication, Sales & Marketing
Mother of affected child
USA