Four Researchers, Four Breakthroughs: How UCSF Transforms Pediatric Hematology

Every discovery in pediatric hematology starts with a question about how to give children with blood disorders longer, healthier lives. At UCSF, those questions are driving new standards of care, revealing overlooked inequities, and turning rare insights into national models for treatment. 

Across the Division of Pediatric Hematology, four physician–scientists are leading breakthroughs to reshape care for children with vascular anomalies, bone marrow failure, sickle cell disease, and thalassemia. 

Repurposing Targeted Cancer Drugs for Vascular Anomalies  

Treatment can be a major challenge for children with vascular anomalies, which are abnormal growths or malformations in blood and lymphatic vessels. While some only require monitoring, others can be highly morbid, causing disfigurement, pain, swelling, and serious organ dysfunction. Surgical and interventional procedures are available for limited disease, but patients with extensive and recurrent disease lack therapy options and require lifelong management.  

We now know that vascular anomalies are often driven by the same types of genetic mutations found in cancer, but the mutations vary from patient to patient, requiring tailored therapy. 

Beth Apsel Winger, MD, PhD, combines molecular biology with precision medicine to match the right patient with the right drug. Her team recently identified a well-known cancer driver in two patients with complex lymphatic malformations.

Because FDA-approved drugs targeting this fusion already exist, she worked with the UCSF Molecular Tumor Board to create a precision medicine treatment strategy for her patients. The treatment’s success defines a new category of therapies for patients with vascular anomalies, demonstrating how a precision medicine approach can unlock new, life-changing treatment options. 

Setting New National Standards for Bone Marrow Failure 

Severe aplastic anemia is a rare, life-threatening condition where a child’s bone marrow isn’t making enough blood cells. For these children, a stem cell transplant from a sibling donor is the best curative therapy. However, not all children have a donor option, and some instead receive immunosuppressive drugs to allow their bone marrow to recover and produce enough blood cells.  

The rarity of the condition means many physicians have limited experience with these complex therapies, leading to inconsistent care. 

Kristin Shimano, MD, leads collaborations with experts across North America in the North American Pediatric Aplastic Anemia Consortium to analyze the latest evidence and build consensus on the best treatment strategies. The group created recommendations that guide how physicians diagnose and treat both new and relapsed cases of this complex disorder, providing physicians with a roadmap for consistent, evidence-based treatment.  

Improving Quality of Life for Women with Sickle Cell Disease 

For women and girls with sickle cell disease (SCD), the disease can be uniquely challenging. Research shows that a majority of females with SCD experience 26% more acute pain episodes than males, with a strong association between these pain crises and the menstrual cycle during their reproductive life span. Neha Bhasin, MD, is working to close this critical and often overlooked gap in care. 

Her multi-center research found that while two-thirds of women with SCD report sickle cell pain associated with their menstrual cycle, less than 20% were on hormonal contraception to help manage it. 

The study showed that incorporating menstrual bleeding assessments into routine visits helped broach the sensitive subject with patients, leading to more patient education and specialist referrals. Following the success of these menstrual assessments, several participating centers established multidisciplinary reproductive health clinics to better address this previously overlooked need.  

Bhasin chairs the SCD Learning Action Network for the Foundation for Women and Girls with Blood Disorders (FWGBD), and recently created a hormonal therapy guide for women with SCD.  

Building a Network of Care for Thalassemia 

For children and adults with thalassemia – a group of genetic blood disorders that restrict the body’s ability to produce hemoglobin – care can look very different depending on the severity of their disease. Some might manage a mild form with minimal intervention, while others may require blood transfusions every few weeks for their entire life.  

Ashutosh Lal, MD, director of the Thalassemia Center at UCSF Benioff Children's Hospital Oakland, emphasizes that coordinated care at a specialized center is critical and leads to significantly better outcomes. Lal’s approach at UCSF, which includes research into the epidemiology and molecular diagnostics of thalassemia, as well as new drug development, has built the center into the largest in the country, managing over 350 active patients.  

He extends his expertise across the region by leading the Thalassemia Western Consortium. This collaboration enhances access to specialized care and provides vital resources for physicians caring for children with thalassemia. 

Together, the work of these four investigators illustrates a single, powerful principle: the future of pediatric hematology is precise, standardized, equitable, and accessible. This is the leadership that defines the UCSF Division of Pediatric Hematology and its drive for tangible progress for children with complex blood disorders.