Dr. Alban Ziegler, MD is a French medical geneticist with extensive clinical and research experience in rare genetic disorders. He completed his medical training in Nancy and his residency in medical genetics at Angers University Hospital. He subsequently practiced as a clinical geneticist at Le Mans Hospital and at the Reference Center for Hereditary Deafness at Necker Hospital in Paris over a two-year period, before undertaking a four-year clinical fellowship in medical genetics at Angers University Hospital. He then pursued a two-year postdoctoral research fellowship at Columbia University in New York.His clinical and research interests span congenital malformations, hereditary deafness, autism spectrum disorders, and exome sequencing, with a particular focus on monogenic and undiagnosed rare diseases. Dr. Ziegler has contributed to several notable advances in medical genetics. He was part of the international research team that identified de novo variants in the LMBRD2 gene as a cause of a syndrome characterized by developmental delay, motor impairment, structural brain anomalies, and dysmorphic features. He also contributed to the discovery of IPO8 as a novel gene implicated in a hereditary form of aortic aneurysm. Dr. Ziegler currently practices as a medical geneticist at Toulouse University Hospital. He actively supports the LMBRD2 Association and is committed to advancing research on this ultra-rare condition.