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She continued to seek out as much information as she could.

Gene therapy research

She educated herself and read whatever she could find, hoping for better treatments for her boys. Her family also turned to the local hemophilia community to meet others with this inherited disease and gain access to new information and resources. The best way to learn about anything is by living through it. I think we have one of the best communities.

And as Jacob, Seth and Ben grew up, they found daily inspiration from each other. While she worried about the kind of life her boys would lead with a diagnosis of hemophilia A, Jolene now looks to the future with great hope. With her oldest son married, her middle son graduated from college and in the workforce, and her youngest son finishing his last year of college, she is confident they will continue to give percent to everything they do.

What drew you to the field of research in hemophilia? I am motivated personally by my experience as a young hematology attending physician in the mids, at the height of the blood supply crisis, when I was caring for many men with hemophilia who contracted AIDS from a blood transfusion. Since that time, researchers have found that the liver is an ideal place to research gene therapy, and it has been my career focus for the past two decades to solve the challenge of gene therapy.

People with hemophilia are no longer in danger of HIV from the blood supply, but they remain burdened by their need for regular infusions of clotting factor — for some, multiple times per week, for all, for a lifetime. Research to date has led to incremental treatment improvements, not transformational changes in care. This not only costs the health system hundreds of thousands of dollars per year per patient, but at a human level, it can ultimately define how you live your life — knowing that you may be at risk for a life-threatening bleeding event.

What motivates and inspires you to continue to innovate within the field of hemophilia? My motivation is the patient. As a physician, I have focused on delivering cutting-edge medical care for my patients for more than three decades. I have seen the significant impact that hemophilia can have not only on the person with the disease but also their family and loved ones.

In championing the patient, the potential gene therapy research could one day provide to people living with hemophilia is incredibly motivating. As a former practicing hematologist, how has your experience caring for patients influenced your work at Spark? Many of these heartbreaking stories resonated deeply with me, including a young man who passed away not long after his wedding and the guilt parents feel when their child inherits a genetic disease.

Haemophilia - Wikipedia

These memories inspire my work at Spark. How did you get involved with gene therapy research, specifically in hemophilia? Genetics and molecular biology fascinated me as a teen. After completing my studies, I moved to Philadelphia and did just that. What motivates and inspires you most about scientific innovation in gene therapy? Gene therapy is an emerging area of medical research that brings exciting potential to how genetic diseases could be treated.

Growing up as a student with a deep sense of intrigue about scientific advancement, I could have never imagined we might now be closer than ever to furthering the study of gene therapy to potentially help patients with limited options.

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What inspires you most about the hemophilia patient community? People living with hemophilia have tremendous strength, given the current standard of care is control or prevention of bleeding episodes through clotting factor replacement therapy, which is taken for life. The hemophilia patient community is one that brings together not only patients, but caregivers, physicians and even researchers, like me, to unite around topics and themes important to those with this rare genetic disease.

We work with advocacy groups from around the world to help connect patients and families to education, research, support services and to each other. Below, please find a partial listing of several groups from the hemophilia advocacy community. Spark Therapeutics sponsors Hemophilia Forward , a place for patients and caregivers in the hemophilia community to read stories from community members, access resources, annd learn about the science of gene therapy research, which is being investigated for hemophilia.

As part of the campaign, more than 40 landmarks around the world were lit up in red to show support for the global bleeding disorders community. This is also referred to as classic hemophilia or factor VIII deficiency. Hemophilia B. This is caused by a deficiency of factor IX. This is also called Christmas disease or factor IX deficiency. Hemophilia C. Some doctors use this term to refer to a lack of clotting factor XI. Elias Zambidis cares for children suffering from leukemia and other blood disorders.

His laboratory studies human pluripotent stem cells, which may one day be used to treat not only blood disorders, but also heart disease, vascular disease, cancer and autoimmune diseases. Hemophilia types A and B are inherited diseases. They are passed on from parents to children through a gene on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. A female carrier has the hemophilia gene on one of her X chromosomes.

If the father has hemophilia but the mother does not carry the hemophilia gene, then none of the sons will have hemophilia disease, but all of the daughters will be carriers. In about one-third of the children with hemophilia, there is no family history of the disorder.

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The severity of hemophilia depends on the amount of clotting factors in the blood. These children may not even be diagnosed until bleeding complications from a surgery occur. Bleeding may also occur from no known injury. Bleeding most often occurs in the joints and in the head.

Bruises can occur from even small accidents. This can result in a large build up of blood under the skin causing swelling hematoma. For this reason, most children are diagnosed around 12 to 18 months of age. This is when the child is more active. Bleeds easily. A tendency to bleed from the nose, mouth, and gums with minor injury.

Bleeding while brushing teeth or having dental work often suggests hemophilia. Bleeding into a joint. Hemarthrosis bleeding into a joint can cause pain, immobility, and deformity if not treated. This is the most common site of complications due to hemophilia bleeding. These joint bleeds can lead to chronic, painful, arthritis, deformity, and crippling with repeated occurrences. Bleeding into the muscles.

Hemophilia - causes, symptoms, diagnosis, treatment, pathology

Bleeding into the muscles can cause swelling, pain, and redness. Swelling from excessive blood in these areas can increase pressure on tissues and nerves in the area. This can cause permanent damage and deformity. Bleeding in the brain from injury or spontaneously.

Hemophilia in Children

Bleeding from injury, or spontaneously in the brain, is the most common cause of death in children with hemophilia and the most serious bleeding complication. Bleeding in or around the brain can occur from even a small bump on the head or a fall. Small bleeds in the brain can result in blindness, intellectual disability, a variety of neurological deficits. It can lead to death if not spotted and treated right away.

Other sources of bleeding. Blood found in the urine or stool may also signal hemophilia. The symptoms of hemophilia may look like other problems. Blood tests include:. Complete blood count CBC. It includes hemoglobin and hematocrit and more details about the red blood cells. Your child's healthcare provider will refer you to a hematologist, an expert in blood disorders. Treatment depends on the type and severity of the hemophilia.

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Treatment for hemophilia is aimed at preventing bleeding complications mainly head and joint bleeds. Treatment may include:. Bleeding in the joint may need surgery or immobilization.