Grand Rounds: Down Syndrome – Not just an extra chromosome!
July 12, 2018, 8 a.m. – 9 a.m., Minneapolis
Brian Skotko, MD
July 12, 2018, 8 a.m. – 9 a.m., Minneapolis
Brian Skotko, MD
October 26, 2017, 8 a.m. – 9 a.m., Minneapolis
David Gregornik, PharmD, BCOP
September 14, 2017, 8 a.m. – 9 a.m., Minneapolis
Stephen Kingsmore, MD, DSc
Rady Children’s Institute for Genomic Medicine expands rapid whole genome sequencing to Children's Minnesota
July 13, 2017, 8 a.m. – 9 a.m., Minneapolis
John E. Wagner, MD
Identical twins, Ingrid and Amelia, couldn't be more different. But 13-month-old Ingrid won't let won't let a rare, genetic form of diabetes slow down her amazing progress.
Children’s Minnesota offers a rare disorders clinic for children with an undiagnosed condition. Each month we bring together a multidisciplinary team of experts to review a child’s medical record to help determine what additional tests might be recommended to find a diagnosis and treatment options. Often times, families have been on a diagnostic odyssey going from one specialist to another without an answer.
The Metabolic and Newborn Screening Follow-up Program offers initial confirmatory evaluations and follow-up care for children whose blood spot screens are abnormal or have a presumed or confirmed inborn error of metabolism. Our team of experts includes biochemical geneticists who specialize in metabolic disorders, genetic counselors, a nurse and a metabolic dietician.
For Anna, rising above the challenges of having a rare chromosomal condition takes spirit and determination. Step-by-step, she’s defying the odds.
Prader-Willi syndrome is a genetic condition that occurs in about 1 in every 12,000-15,000 people.