Help Pick our 2019 Beneficiary

Please read a little more about our 3 choices!

 
 
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Down Syndrome Clinic

Each year, specialists in this program care for more than 1,000 children. In order to care for the whole child and his or her family, Children’s offers an array of supportive and ancillary services that are not reimbursable by insurance. The Down Syndrome Clinic provides access to social workers and a genetic counselor trained to work with this patient family population. Meeting with a genetic counselor is considered a vital component of new patient evaluation within the program. Genetic counselors spend time with families to ensure all necessary testing is completed, help families understand their child’s condition, and guide them through the emotional and psychological responses to lifelong diagnosis, prognosis, and inherent uncertainty. The services provided in this clinic are not reimbursable by insurance and rely on philanthropic contributions for the success of the program and working with every patient and family.

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Gene-Based Therapy Research

With expertise and passion for caring for patients with epilepsy, neurodegenerative diseases, and neuro-genetic conditions, Dr. Minassian has dedicated much of his 20 years of research to understanding and targeting the genetic cause of pediatric brain diseases, which are typically caused by gene mutations. While, individual, neurological diseases are rare, collectively they account a large portion of diseases in children, many of which can have devastating consequences. With 80% of the 30,000 genes within the body affecting the brain, most pediatric neurological conditions are based on a single genetic defect. Through the research and recent development of gene-based therapies, there is now great promise in the treatment of such neuro-genetic disorders. By applying the same principles of gene-based therapy to both rare and common conditions of the brain, the clinical research efforts led by Dr. Minassian at Children’s will unlock potential cures for a vast range of devastating genetic and neurological conditions in children.

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Genetic and Metabolic Disease Program

Approximately one in four admissions to tertiary care pediatric hospitals results from conditions with a genetic basis. Although the majority of these conditions are individually rare, they collectively account for a disproportionate amount of illness and death in children, particularly in the developed world. A crucial feature of genetic metabolic diseases in childhood is that once these diseases are understood at the molecular level, many can be treated. Discovery of the genetic basis of rare conditions also often helps to explain the basis of much more common diseases, uncovering new opportunities for treatment. The Genetic and Metabolic Disease Program was established within the Children’s Medical Center Research Institute at UT Southwestern (CRI) in 2012 to close this knowledge gap by discovering new gene mutations in childhood disease, understanding how these mutations cause disease, and using this information to develop new treatments.

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