Left ventricular dilatation was present in 43% of the patients and 10% of patients had both a left ventricular ejection fraction of less than 50% and severe left ventricular dilatation. There is ...

The Supplemental Oxygen Access Reform (SOAR) Act is stalled in the US Congress. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Amy Case, MD, chief medical officer of the ...

myCME is the premier destination for continuing medical education (CME) and continuing education (CE), committed to providing high-quality, evidence-based, and user-friendly courses tailored to the ...

Researchers can assess the effectiveness of their chosen guide RNA against all possible target sites in the TTR gene, or other genes of interest, to enable the development of efficient and safe gene ...

Despite treatment advancements with the introduction of HDMTX and rituximab, up to half of patients will have disease relapse, and 10%–15% may have primary refractory disease. The choice of ...

Vosoritide’s positive impact on height and body proportionality among children with achondroplasia translates into improved health-related quality of life parameters. Vosoritide results in improved ...

Engagement with and the impact of dance interventions vary based on participants' gender, family support, and personal immersion through self-practice. Family participants are more inclined to take up ...

The strategies include stakeholder mapping tools, educational programs to improve literacy on regulations about genetic testing, increasing disease awareness among medical geneticists and genetic ...

While current hemophilia therapies offer a significant level of protection, patients continue to struggle with unmet physical and social needs. The continued development of new therapies is needed to ...

Genetic testing revealed a V30M mutation in the transthyretin (TTR) gene. Researchers from UCLA Health in Los Angeles, California, presented the case of a patient with familial transthyrenin amyloid ...

The primary goals of BEACH301 are to assess the safety and tolerability of TYRA-300, and to evaluate its impact on growth velocity. The US Food and Drug Administration (FDA) has cleared Tyra ...

In addition to better efficacy and convenience, rFVIIIFc was found to be safe and well tolerated by all ages of patients with hemophilia A. Results of the European A-SURE study show that extended half ...