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Welcome to The Visible Embryo, a comprehensive educational resource on human development from conception to birth.

The Visible Embryo provides visual references for changes in fetal development throughout pregnancy and can be navigated via fetal development or maternal changes.

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Pregnancy Timeline by SemestersFemale Reproductive SystemFertilizationThe Appearance of SomitesFirst TrimesterSecond TrimesterThird TrimesterFetal liver is producing blood cellsHead may position into pelvisBrain convolutions beginFull TermWhite fat begins to be madeWhite fat begins to be madeHead may position into pelvisImmune system beginningImmune system beginningPeriod of rapid brain growthBrain convolutions beginLungs begin to produce surfactantSensory brain waves begin to activateSensory brain waves begin to activateInner Ear Bones HardenBone marrow starts making blood cellsBone marrow starts making blood cellsBrown fat surrounds lymphatic systemFetal sexual organs visibleFinger and toe prints appearFinger and toe prints appearHeartbeat can be detectedHeartbeat can be detectedBasic Brain Structure in PlaceThe Appearance of SomitesFirst Detectable Brain WavesA Four Chambered HeartBeginning Cerebral HemispheresEnd of Embryonic PeriodEnd of Embryonic PeriodFirst Thin Layer of Skin AppearsThird TrimesterDevelopmental Timeline
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September 13, 2012--------News Archive Return to: News Alerts


Muscular dystrophies are X-linked, carried on one of the female chromosomes, resulting
from a mutation of the dystrophin gene at locus Xp21. As female children have two
copies of the gene, the one normal gene will compensate for the mutated gene.
But, male children of the carrier who inherit the mutated gene will display symptoms.

WHO Child Growth Charts

       

Breakthrough in Fight Against Muscular Dystrophies

Recent findings by an international collaboration of researchers identify muscleblind-like proteins with new implications for the pathogenesis of myotonic dystrophy

An important breakthrough could help in the fight against myotonic dystrophy. The discovery, recently published in the prestigious scientific journal Cell, results from an international collaboration between researchers at the IRCM, the Massachusetts Institute of Technology (MIT), the University of Southern California and Illumina. Their findings could lead to a better understanding of the causes of this disease.

Myotonic dystrophy (DM), also known as Steinert's disease, is the most common form of muscular dystrophies seen in adults. This disorder is characterized by muscle weakness and myotonia (difficulty in relaxing muscles following contraction). It is a multi-system disease, typically involving a wide range of tissues and muscle.


“We studied a specific family of proteins called
muscleblind-like proteins (Mbnl), which were first
discovered in the fruit fly Drosophila melanogaster
.

These RNA-binding proteins are known to play
important functions in muscle and eye development,
as well as in the pathogenesis of DM in humans.”


Dr. Éric Lécuyer
Director, RNA Biology research unit, IRCM


Because of the extreme heterogeneity of clinical symptoms, DM has been described as one of the most variable and complicated disorders known in medicine. The systems affected, the severity of symptoms, and the age of onset of those symptoms greatly vary between individuals, even within the same family.


“In patients with Myotonic dystrophy (DM),
levels of Mbnl proteins
are depleted
to different extents in various tissues.
These alterations in levels and functions of
Mbnl proteins are thought to play an important role
in causing the disease.”

Dr. Neal A.L. Cody


“The global transcriptome analyses conducted in this study yielded several insights into Mbnl function and established genomic resources for future functional, modeling, and clinical studies,” add Drs. Christopher B. Burge and Eric T. Wang from MIT, the researchers who headed the study.

“This knowledge will be invaluable in reconstructing the order of events that occur during DM pathogenesis, and could lead to the development of diagnostic tools for monitoring disease progression and response to therapy.”


According to Muscular Dystrophy Canada,
myotonic dystrophy is the most common
form of muscle disease, affecting approximately
one person in 8,000 worldwide.

However, in Quebec’s region of Charlevoix /
Saguenay-Lac-Saint-Jean, the prevalence is exceptionally
high, with one person in 500 affected by the disease.


There is no cure for myotonic dystrophy at the present time. Treatment is symptomatic, meaning that problems associated with myotonic dystrophy are treated individually.

About the research project
This research project was funded by grants from the National Institutes of Health (NIH) to Christopher B. Burge and by an NIH training grant and a Muscular Dystrophy Foundation fellowship to Eric T. Wang. Work conducted by Neal A.L. Cody in Dr. Lécuyer’s laboratory was funded by the Fonds de Recherche du Québec – Santé.

The article published in Cell, Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins, was prepared by Eric T. Wang, Thomas T. Wang, Daniel J. Treacy, David E. Housman and Christopher B. Burge from the David K. Koch Institute for Integrative Cancer Research at the Massachusetts Institute of Technology (MIT); Neal A.L. Cody and Éric Lécuyer from the IRCM; Sonali Jog, Michela Biancolella and Sita Reddy from the University of Southern California; and Shujun Luo and Gary P. Schroth from Illumina Inc.

For more information on this scientific breakthrough, please refer to the article summary published online by Cell: http://www.cell.com/abstract/S0092-8674(12)00885-9.

About Dr. Éric Lécuyer
Éric Lécuyer obtained his PhD in molecular biology from the Université de Montréal. He is an Assistant IRCM Research Professor and Director of the RNA Biology research unit. Dr. Lécuyer is assistant professor-researcher in the Department of Biochemistry at the Université de Montréal. He is also adjunct professor in the Department of Medicine (Division of Experimental Medicine) at McGill University. Dr. Lécuyer is a research scholar from the Fonds de recherche du Québec – Santé. For more information, visit www.ircm.qc.ca/lecuyer.

About the IRCM
Founded in 1967, the Institut de recherches cliniques de Montréal (IRCM) (www.ircm.qc.ca) is currently comprised of 37 research units in various fields, namely immunity and viral infections, cardiovascular and metabolic diseases, cancer, neurobiology and development, systems biology and medicinal chemistry. It also houses three specialized research clinics, eight core facilities and three research platforms with state-of-the-art equipment. The IRCM employs 425 people and is an independent institution affiliated with the Université de Montréal. The IRCM clinic is associated to the Centre hospitalier de l’Université de Montréal (CHUM). The IRCM also maintains a long-standing association with McGill University.

Original article: http://www.ircm.qc.ca/Medias/Communiques/Pages/detail.aspx?pID=67&PFLG=1033