ABOUT THE TANGO2 RESEARCH FOUNDATION

Our Mission

Our mission is to lead the way in finding a cure for TANGO2 deficiency disorder. We will do this by helping to fund, coordinate and guide scientific research that leads to a better understanding of how TANGO2 mutations affect people at the most basic cellular and biochemical pathway levels.

Our History

TANGO2 Deficiency Disorder (TDD) was first identified as a human disease in 2016 following advances in genomic technologies such as Whole Exome Sequencing (WES), which have dramatically accelerated the discovery of rare genetic conditions. At the time, only a handful of individuals had been diagnosed worldwide, and virtually nothing was known about how TANGO2 variants disrupted normal cellular function or caused the devastating neurological, metabolic, and cardiac complications experienced by affected individuals.

For families receiving a diagnosis, the uncertainty was overwhelming. Physicians and researchers were committed to helping people with TDD but had little scientific evidence to guide diagnosis, treatment, or long-term care. Families quickly realized that meaningful progress would require a coordinated effort to build the scientific knowledge needed to understand the disease and develop effective therapies.

In late 2017, two Connecticut parents transformed that shared determination into action. After connecting with other families through an online TANGO2 community, they founded the TANGO2 Research Foundation (T2RF). Their vision was simple yet ambitious: unite families, researchers, clinicians, and partners around the world to accelerate research, improve clinical care, and ultimately find a cure for TANGO2 Deficiency Disorder.

Today, T2RF has grown into a global patient-led organization that supports families across multiple continents, has invested more than $1.3 million in TDD research, and has helped establish a collaborative international research community. Through strategic research funding, patient engagement, scientific collaboration, natural history research, and educational initiatives, the Foundation continues to drive discoveries that are improving the understanding, diagnosis, and treatment of TDD while bringing hope to families worldwide.

Our Leadership

Board of Directors​

The TANGO2 Research Foundation’s Board of Directors is an international team of dedicated parents, clinicians, researchers, and advocates united by a shared commitment to improving the lives of individuals with TANGO2 Deficiency Disorder (TDD). Drawing on both lived experience and professional expertise, the Board provides strategic leadership and governance to advance the Foundation’s mission.

Working alongside the global TDD community, the Board guides the Foundation’s priorities, stewards its resources, and supports investments in innovative research, education, and collaboration. Their collective goal is to accelerate scientific discovery, improve diagnosis and clinical care, and advance the development of effective treatments—and ultimately a cure—for TANGO2 Deficiency Disorder.

Our Scientific Advisory Board

The TANGO2 Research Foundation’s Scientific Advisory Board is an international group of distinguished clinicians, researchers, and scientific experts dedicated to advancing the understanding of TANGO2 Deficiency Disorder (TDD). Through their collective expertise, the Board provides independent scientific guidance to help shape the Foundation’s research strategy and ensure that investments align with the most promising opportunities to improve patient outcomes.

In addition to advising on research priorities and funding decisions, the Scientific Advisory Board fosters collaboration among researchers, healthcare professionals, and the TDD community. By promoting scientific exchange, accelerating knowledge generation, and strengthening connections between families and the medical and research communities, the Board plays a critical role in advancing research, improving clinical care, and moving the field closer to effective treatments—and ultimately a cure—for TDD.

ABOUT TANGO2n deficiency disorder

What is TANGO2?

TANGO2 (Transport and Golgi Organization 2) is a gene located on chromosome 22 (22q11.21) that plays an important role in normal cellular function and energy metabolism. TANGO2 Deficiency Disorder (TDD) was first described in 2016 following advances in genomic sequencing technologies that enabled researchers to identify the condition as a distinct rare genetic disorder.

TDD is inherited in an autosomal recessive pattern, meaning an individual must inherit one disease-causing variant in the TANGO2 gene from each parent. Parents who each carry a single pathogenic variant are typically healthy and unaffected but have a 25% chance with each pregnancy of having a child with TDD.

Although significant progress has been made since the disorder was first identified, TDD remains an ultra-rare condition, and researchers continue to investigate the full range of TANGO2’s biological functions, disease mechanisms, and potential therapeutic approaches.

What is TANGO2 deficiency disorder?

TANGO2 Deficiency Disorder (TDD) is an ultra-rare, life-threatening genetic condition that affects multiple organ systems, particularly the brain, heart, and muscles. Individuals with TDD experience a wide range of symptoms that may include developmental delay, intellectual disability, seizures, movement disorders, muscle weakness, metabolic crises, and potentially fatal cardiac arrhythmias.

Symptoms and disease severity vary from person to person, but acute metabolic crises, often triggered by illness, fasting, or physical stress, can rapidly become medical emergencies requiring immediate treatment.

TDD is caused by inherited mutations in the TANGO2 gene and follows an autosomal recessive pattern, meaning a child must inherit one altered copy of the gene from each parent.

First identified in 2016, TDD remains an ultra-rare disorder with no approved disease-modifying treatments or cure. Ongoing research is improving our understanding of the disease and advancing the development of new therapies that offer hope to affected individuals and their families.

What are the Symptoms of TANGO2-related deficiency disorder?

Although there are some common symptoms and conditions across those affected by TANGO2 disease, there is also broad variability in terms of presentation and severity of them for each individual. In all cases though, the potential for rhabdomyolysis and life-threatening cardiac arrhythmia brought on by metabolic crisis is always there.

Primary Symptoms

• Metabolic Crisis​: a serious condition caused by low blood sugar and the build-up of toxic substances in the blood.
• Rhabdomyolysis: ​a breakdown of muscle tissue that releases a damaging protein into the blood
• Cardiac Arrhythmias​: life-threatening ventricular tachycardia (fast heart rate)

Other Important Symptoms

• Intellectual Disability:​ developmental delay is present in almost all individuals with varying severity
• Regression:​ Loss of previously acquired motor, verbal and cognitive skills
• Poor Coordination and Unsteady Gait: ​Poor coordination, unsteady gait, or clumsiness
  is frequently reported in individuals who are walking
• Episodic Muscle Weakness: ​recurrent episodes of muscle weakness in hands, limbs or trunk that can last minutes, hours or days
• Benign Paroxysmal Torticollis (BPT): ​periods of unusual, sustained posturing of the head and neck, during which the head tilts to one side
• Seizures: ​Seizures are observed in more than 75% of individuals