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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.

The National Institutes of Child Health and Human Development awarded Phase I and Phase II Small Business Innovative Research Grants to develop The Visible Embryo. Initally designed to evaluate the internet as a teaching tool for first year medical students, The Visible Embryo is linked to over 600 educational institutions and is viewed by more than one million visitors each month.

Today, The Visible Embryo is linked to over 600 educational institutions and is viewed by more than 1 million visitors each month. The field of early embryology has grown to include the identification of the stem cell as not only critical to organogenesis in the embryo, but equally critical to organ function and repair in the adult human. The identification and understanding of genetic malfunction, inflammatory responses, and the progression in chronic disease, begins with a grounding in primary cellular and systemic functions manifested in the study of the early embryo.

WHO International Clinical Trials Registry Platform


The World Health Organization (WHO) has created a new Web site to help researchers, doctors and
patients obtain reliable information on high-quality clinical trials. Now you can go to one website and search all registers to identify clinical trial research underway around the world!



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Pregnancy Timeline by SemestersFetal 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 HemispheresFemale Reproductive SystemEnd of Embryonic PeriodEnd of Embryonic PeriodFirst Thin Layer of Skin AppearsThird TrimesterSecond TrimesterFirst TrimesterFertilizationDevelopmental Timeline
CLICK ON weeks 0 - 40 and follow along every 2 weeks of fetal development
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Home | Pregnancy Timeline | News Alerts |News Archive May 8, 2014

 


An unfortunate inheritance from living in very small communities that intermarry,
can be gene mutations that get passed down for many generations.

The Ottoman Empire: 1350 to 1918

Founded in the late 13th century by the Ottoman Turks, the Ottoman empire lasted until 1918.
After the armistice ending WWI, the Ottoman Empire was dismantled by the Allied Powers,
paving the way for the creation of individual states in today's modern Middle East.






WHO Child Growth Charts

 

 

 

Rare brain disorder legacy from the Ottoman Empire

An international team of researchers have identified a previously unknown neurodegenerative disorder caused by a single mutation in one individual born during the Ottoman Empire in Turkey about 16 generations ago.

The genetic cause of the rare disorder was discovered during a massive analysis of the individual genomes of thousands of Turkish children suffering from neurological disorders.


"The more we learn about basic mechanisms behind rare forms of neuro-degeneration, the more novel insights we gain into more common diseases such as Alzheimer's and Lou Gehrig's Disease."

Murat Gunel, Nixdorff-German professor of neurosurgery, and professor of genetics and neurobiology, Yale


Gunel is a senior co-author of one of two papers published in the April 24 issue of the The American Society of Human Genetics published by the journal Cell which documents the devastating effects of a mutation in the CLP1 gene.

Gunel and colleagues at Yale Center for Mendelian Genomics along with Joseph Gleeson's group at University of California-San Diego, compared DNA sequencing results of more than 2,000 children from different families with neurodevelopmental disorders. In four apparently unrelated families, they identified the exact same mutation in the CLP1 gene. Working with the Frank Bass group from the Netherlands, the researchers also studied how this mutation interrupts communication between genes and their production of proteins.


CLP1 mutations interfer with the transfer of information from genes to a cells' protein-making machinery.

The discovery of the identical mutation, in what appear to be unrelated families originally from eastern Turkey, suggested an ancestral mutation dating back several generations.

Affected children suffer from intellectual disability, seizures, and delayed or absent mental and motor development, imaging studies show atrophy affecting their cerebral cortex, cerebellum, and brain stem.


The second article in the April 24 issue of the The American Society of Human Genetics published by the journal Cell is by researchers from Baylor School of Medicine and Austria also found the identical CLP1 mutation in another 11 children from an additional five families — originally from eastern Turkey.


A high prevalence of consanguineous marriage — or marriage between closely related people — in Turkey and the Middle East leads to these rare recessive genetic neurodegenerative disorders.

Affected children inherit mutations in the same gene from both of their parents, who are closely related to each other, such as first cousins.

Without consanguinity between parents, children are very unlikely to inherit two mutations in the same gene.


"By dissecting the genetic basis of these neurodevelopmental disorders, we are gaining fundamental insight into basic physiological mechanisms important for human brain development and function" Gunel said. "We learn a lot about normal biology by studying what happens when things go wrong."

1. Abstract
Joubert syndrome and related disorders (JSRDs) are genetically heterogeneous and characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina, and kidney. We identified predicted null mutations in CSPP1 in six individuals affected by classical JSRDs. CSPP1 encodes a protein localized to centrosomes and spindle poles, as well as to the primary cilium. Despite the known interaction between CSPP1 and nephronophthisis-associated proteins, none of the affected individuals in our cohort presented with kidney disease, and further, screening of a large cohort of individuals with nephronophthisis demonstrated no mutations. CSPP1 is broadly expressed in neural tissue, and its encoded protein localizes to the primary cilium in an in vitro model of human neurogenesis. Here, we show abrogated protein levels and ciliogenesis in affected fibroblasts. Our data thus suggest that CSPP1 is involved in neural-specific functions of primary cilia.

2. Abstract
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation.

Funding for the Gunel study was provided by National Human Genome Research Institute and the Gregory M. Kiez and Mehmet Kutman Foundation.

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