Division of Hematology News

Researchers at Children’s Hospital of Philadelphia (CHOP) are shedding light on how two genetic factors – an extra copy of chromosome 21 (trisomy 21) and mutations in the GATA1 gene – interact to derail early blood cell development.

Researchers at Children’s Hospital of Philadelphia (CHOP) sought to better understand how the body regulates activated FVIII function, especially in interactions with other clotting factors, to inform associated pathology and therapeutic drug design.

Children’s Hospital of Philadelphia (CHOP) hosted the Cure Sickle Cell Walk & Family Fun Day presented by West Pharmaceutical Services on Saturday, June7. It was a morning of walking, cheering and celebrating sickle cell warriors and their families at Citizens Bank Park. The event, which included a ceremonial walk to honor those with sickle cell disease, along with fun activities for the whole family, raised more than $242,000 for sickle cell disease research and patient care.

Researchers at Children’s Hospital of Philadelphia (CHOP) found compelling preclinical evidence that a molecule called tumor necrosis factor alpha (TNFα), typically known for promoting inflammation, also plays a helpful role in recovery from anemia that is caused by ongoing immune disturbances.

Researchers at Children’s Hospital of Philadelphia (CHOP) announced the results of the longest follow-up study to date for individuals receiving the gene therapy fidanacogene elaparvovec to treat hemophilia B, a rare, X-linked disorder resulting from a deficiency in coagulation factor IX (FIX) activity.

In a study published in the journal Molecular Therapy Methods and Clinical Development, researchers at Children’s Hospital of Philadelphia (CHOP), in collaboration with researchers at the School of Veterinary Medicine at the University of Pennsylvania, found that adeno-associated viral (AAV) gene therapy has the potential to be a life-changing treatment for companion dogs –pets – with severe hemophilia, an inherited bleeding disorder caused by deficiency of clotting factor.

In a preclinical study, researchers at Children’s Hospital of Philadelphia (CHOP) demonstrated a novel gene therapy with potentially increased effectiveness and safety for the treatment for metachromatic leukodystrophy (MLD), a rare disease in young children characterized by the deficient activity of a critical enzyme. Without effective treatment, MLD leads to rapidly declining neurological skills in young children and is potentially fatal. The promising findings were published in the journal Molecular Therapy Nucleic Acids.

In a preclinical study, researchers at Children’s Hospital of Philadelphia (CHOP) demonstrated a novel treatment strategy for patients with Fanconi anemia (FA), a rare genetic disease resulting in loss of blood-forming stem cells in the bone marrow. The researchers successfully used in situ mRNA delivered directly into the body by lipid nanoparticles (LNPs) to target bone marrow cells and transiently restore stem cell function in patients with FA.

Researchers at Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania Perelman School of Medicine pioneered a first of its kind gene therapy model that offers a potential breakthrough in treating X-linked sideroblastic anemia (XLSA), a rare congenital anemia caused by mutations in the ALAS2 gene crucial for the synthesis of heme, a key compound in hemoglobin. This study marks the first time researchers studied gene therapy to treat this disease, which the authors underscore could have an impact on a broad spectrum of diseases. The research was published today and featured on the cover of the journal Blood.

Family Newsletter from the Comprehensive Hemostasis and Thrombosis Center at Children’s Hospital of Philadelphia.