Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome.

Bardet-Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS discovered by whole genome sequencing in a newborn with heterotaxy, duodenal atresia, and complex congenital heart disease. Early diagnosis is important not only for prognostication but also to explore ways to mitigate the cone-rod dysfunction and for exploring newer therapies. Our case highlights the importance of a high index of suspicion and the utility of advanced genetic testing to provide an early diagnosis for a rare disease.

Pharmacokinetics, metabolism, and in vivo efficacy of the antimalarial natural product bromophycolide A.

A suite of pharmacokinetic and pharmacological studies show that bromophycolide A (1), an inhibitor of drug-sensitive and drug-resistant Plasmodium falciparum, displays a typical small molecule profile with low toxicity and good bioavailability. Despite susceptibility to liver metabolism and a short in vivo half-life, 1 significantly decreased parasitemia in a malaria mouse model. Combining these data with prior SAR analyses, we demonstrate the potential for future development of 1 and its bioactive ester analogs.