Michael Ehlers Biogen Michael Ehlers is Executive Vice President for Research & Development at Biogen, a leading biotechnology company. Dr. Ehlers grew up rural Nebraska and earned his bachelor’s degree in chemistry from Caltech. He holds MD and PhD degrees from the Johns Hopkins University School of Medicine, where he trained with Rick Huganir. Prior to joining Biogen in 2016, Dr. Ehlers was S...

Ehlers-Danlos syndrome is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. It is one of the oldest known causes of bruising and bleeding and was first described by Hipprocrates in 400 BC. Edvard Ehlers, in 1901, recognized the condition as a distinct entity. In 1908, ...

PURPOSE To evaluate if using the Ehlers correction factor on the intraocular pressure (IOP) measured using the Goldmann applanation tonometer (GAT) improves its agreement with the PASCAL dynamic contour tonometer (DCT). PATIENTS AND METHODS A total of 120 eyes of 120 individuals were examined. Participants underwent IOP measurement with both the DCT and the GAT and central corneal thickness m...

Ehlers-Danlos syndrome is an inherited connective tissue disorder. Clinical manifestations of this syndrome are due to fragile connective tissue. Though many cardiovascular disorders in association with it have been reported, myocardial infarction is quite rare. In this report, two cases with type 4 Ehlers-Danlos syndrome and myocardial infarction are described. Patient 1 was a 30-year-old woma...

Vascular Ehlers-Danlos Syndrome (previously Ehlers-Danlos IV) is a rare autosomal dominant collagen vascular disorder caused by a 2q31 COL3A1 gene mutation encoding pro-alpha1 chain of type III collagen (in contrast to classic Ehlers-Danlos, caused by a COL5A1 mutation). The vascular type accounts for less than 4% of all Ehlers-Danlos cases and usually has a poor prognosis due to life threateni...

The Ehlers-Danlos syndrome comprises a group of generalized connective tissue disorders characterized by fragile skin, skin hyperextensibility, and joint hypermobility. More than 10 types of Ehlers-Danlos syndrome have been identified based on genetic and biochemical studies. What is now known as Ehlers-Danlos syndrome (EDS) Type VIII was first described in 1972. We report a case of EDS Type VI...

Two families are described in which the Ehlers-Danlos syndrome is apparently transmitted as an X-linked recessive character. The results of tests for the Xg blood groups and for colour vision show that the locus for the Ehlers-Danlos syndrome is not close to that for the Xg groups nor very close to the locus for deutan colour-blindness.The clinical features of this variety of the Ehlers-Danlos ...

Ehlers-Danlos syndrome encompasses a group of inherited disorders of connective tissue, some of which are characterised by abnormalities of collagen metabolism. The chromosomal location, identified genes and biochemical defects, inheritance pattern, and clinical features for the various known subtypes are outlined. Prenatal diagnosis is possible for types IV, VI, VIIA1, and VIIA2. An unusual pr...

Retroperitoneal hemorrhagic bleeding is a known manifestation of Type-IV Ehlers-Danlos Syndrome that is caused by loss-of-function mutations of the pro-alpha-1 chains of type III pro-collagen (COL3A1) resulting in vascular fragility. A number of previous reports describe futile surgical intervention for retroperitoneal bleeding in Type-IV Ehlers-Danlos Syndrome with high post-operative mortalit...

BACKGROUND The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments. CASE PRESENTA...