POPULARITY
Leading into Rare Disease Week on Capitol Hill when a team of more than a dozen CMD community members from around the U.S. will advocate for policies, greater funding, and support for CMD...we thought it would be good to check in with Gustavo Dziewczapolski, PhD, Cure CMD Scientific Director, on the current state of CMD research. Quick find for each subtype: 1. SEPN1 - 05:45 2. LMNA - 15:05 3. Collagen VI - 21:46 4. LAMA 2 - 31:35 5. a-Dystroglycanopathy - 38:09 Funding portfolio online: https://www.curecmd.org/funding-portfolio Dr. Dziewczapolski received his Master's degree from the University of Buenos Aires, followed by a Ph.D. in Neuropharmacology. Before joining Cure CMD in September 2016, he researched neurological diseases for eighteen years at UC San Diego and the Salk Institute. He is the father of two beautiful daughters, Tatiana and Rafaela, who continue to challenge and inspire him. And to balance his addiction to chocolate, he enjoys surfing and soccer. Find Two Rare Mama Bears on Facebook, Instagram & Twitter: 2raremamabears
Transition from teenager to college-bound can be hard for any young adult, and frequently is increasingly more challenging for those with a disability to factor in. Liam Miller is currently a sophomore Computer Science major at Temple University in Philadelphia, Pennsylvania who is not letting Collagen VI slow him down - he’s active socially and academically, as well as plays for the Philadelphia Flyers PowerPlay - Power Wheelchair Floor Hockey. Liam shares with us his experiences transitioning to college and the importance he learned in planning ahead.
Paolo Bonaldo, Biotechnology Center, Lab. of Matrix Biology and Functional Genomics Department of Molecular Medicine, University of Padova - ITALY speaks on "Collagen VI, a key extracellular regulator of skeletal muscle".This seminar has been recorded by ICGEB Trieste
Guest: Dr. Carsten Bonnemann, MD, Senior Investigator, Neurogenetics Branch, and Chief of Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health Access an abstract of this month's featured research article: Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69(1):206-11.
Guest: Dr. Carsten Bonnemann, MD, Senior Investigator, Neurogenetics Branch, and Chief of Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health Access an abstract of this month's featured research article: Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69(1):206-11.
A total of 74 human skin wounds were investigated and collagen types I and VI were localized in the wound area by immunohistochemistry. Collagen type I appeared in the form of ramifying string-like structures after approximately 5–6 days, but positive reactions in the form of a spot-like staining around isolated fibroblasts also occurred in a skin wound aged 4 days. Collagen VI was detectable after a post-infliction interval of at least 3 days showing a strongly positive reacting network associated with fibroblasts in the wound area. Both collagens appeared almost constantly after a wound age of 6–7 clays and could also be found in wounds aged a few months. Therefore, although a positive reaction for collagen type I in the form of string-like and ramifying structures around wound fibroblasts indicates a wound age of at least 5–6 days, a spot-like positive staining for collagen type I cannot exclude a wound age of at least 4 days. A positive staining for collagen type VI represents a post-infliction time of 3 days or more. The almost constant appearance of these collagen types suggests that negative results in a sufficient number of specimens indicate a wound age of less than 6–7 days, but cannot completely exclude longer post-infliction intervals. Since collagen type I and VI are also found in the granulation/scar tissue of lesions with advanced wound age, the immunohistochemical analysis of these proteins provides no further information for an age determination of older skin wounds.