Recent research has discovered a new, potential treatment option that could provide an early intervention for Beckwith-Wiedmann syndrome and Russell-Silver syndrome. Published in Cell Reports, this study could provide the foundation for research that will not only improve treatment for these two conditions, but prenatal detection as well.
About Beckwith-Wiedmann Syndrome (BWS)
Beckwith-Wiedmann syndrome is a rare, genetic condition that is characterized by overgrowth, typically through large organs and body size. It can cause a wide range of symptoms, such as abdominal wall defects, low blood sugar, creased ear lobes, large size and excessive weight from birth until about age seven, an enlarged tongue, a red birthmark on the eyelids or forehead, the enlargement of organs, overgrowth on one side of the body, and tumor growth. These effects are usually the response of a spontaneous genetic mutation on chromosome 11. At times, this condition can be passed down in an autosomal dominant pattern. There is no cure; treatment is symptomatic and supportive. Doctors may use intravenous glucose, medications like diazoxide, frequent feedings, and surgical intervention. Patients should also be screened for tumors frequently.
About Russell-Silver Syndrome (RSS)
Russell-Silver syndrome is a rare disorder that is characterized by distinct facial features, intrauterine growth restriction, poor growth, and feeding difficulties. RSS can lead to a wide range of symptoms that vary in severity, such as poor growth, inability to gain weight, asymmetry in the body, distinct craniofacial features, relatively large head size, feeding difficulties, gastrointestinal problems, low blood sugar, and a delay in the development of motor and speech skills. In a smaller number of cases, patients have reported structural heart defects, cleft palate, genitourinary abnormalities, and orthopedic problems. A mutation on either chromosome 7 or chromosome 11 have been found to cause RSS, both of which are related to genetic imprinting. In terms of treatment, there is no cure. Doctors will treat the symptoms that affect in each patient. Early diagnosis and treatment provides the best outcomes.
About the Study
Researchers from the Van Andel Institute wanted to find a treatment option for RSS and BWS patients that could halt some of the symptoms that become apparent later in life. Early intervention provides the best outcome for these patient populations.
Previous research has shown that the protein IGF2 plays an integral role in fetal development and growth, and it is involved in both conditions. Armed with this knowledge, the researchers used models of the diseases to find that they could measure levels of this protein in the amniotic fluid and correlate those levels with either BWS or RSS.
This means that there is a method to detect these syndromes before a child has even been born. Early diagnosis is absolutely necessary for early intervention, so this is a very exciting step forward for rare disease research.
Moving beyond detection, the team from Van Andel Institute was also able to correct the altered levels of IGF2, which reversed the growth symptoms that had been present in the models. Using an FDA approved cancer treatment that was designed to target IGF2, models of BWS began to signal normalized fetal growth.
While more research is necessary, medical professionals are very excited by these developments.
You can find the source article here.