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

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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.

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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 Sep 6, 2013

 

Max Watson

Because of the complexity of Max's medical conditions, a team of world class doctors provide
the needed support to keep him alive. While he is developmentally delayed, he continues
to confound the experts by exceeding each goal and expectation that is set before him.
His website.




WHO Child Growth Charts

6

 

 

New genetic defect, an inability to process Vitamin B12

An international team of scientists has discovered a new disease related to an inability to process Vitamin B12. A Colorado boy and his family play a key role in uncovering this rare, but devestating disorder.

"Some people with rare inherited conditions cannot process vitamin B 12 properly," says University of Colorado School of Medicine and Children's Hospital Colorado, researcher Tamim Shaikh, PhD, a geneticist and senior author of a paper about the new disease. "These individuals can end up having serious health problems, including developmental delay, epilepsy, anemia, stroke, psychosis and dementia."

The discovery is important because it could help doctors diagnose the disease and, eventually, could lead to prevention or treatment. But there is more to the story. Max Watson, a 9-year-old Colorado boy, who uses a computer to communicate, was the first patient in whom this discovery was made. His older sister Abbey, 15, volunteered in the CU lab that helped achieve this medical breakthrough. His parents cooperated with the study knowing that the results likely would not help their son, but might help future patients.

The discovery, published today in The American Journal of Human Genetics, illustrates the complex and relatively new realm of medical discovery where researchers peer into the genetic make-up of patients to discern what went wrong to cause a disease.


As vitamin B 12 is also called cobalamin, the new disease is called cobalimin X, or cblX. Obtained from foods such as milk, eggs, fish and meat, B 12 is essential to human health because it helps the body convert food into fuel. It's vital to the nervous system and for making red blood cells.


Max was born with symptoms that looked like he had a B 12 problem called cobalamin C deficiency or cblC for short, which, like its newly discovered counterpart, can show up in utero. The gene for cblC had been discovered by researchers who studied several hundred patients with similar symptoms. A few of those patients, however, did not have the genetic mutation that that was common to the cblC patients. And some, like Max, had symptoms that didn't quite match up.

"We knew from early on that something was unusual about this patient," says Johan Van Hove, MD, a CU professor in the Department of Pediatrics, who saw Max when the boy was just a few months old. Max was labeled as having cblC – but Van Hove and others on a team of metabolism experts at Children's Hospital Colorado had their doubts. Some of Max's symptoms seemed too severe for that diagnosis.


Tamim Shaikh, an associate professor in the medical school's pediatrics department, and CU colleagues, used what is called next generation genetic sequencing to delve into Max's DNA.

They also looked at genes of patients who didn't fit the cobalamin C model, obtained from partners at the National Institutes of Health, and in Canada and Switzerland. All of those patients carried mutations that hadn't been identified before.

The problem was due to flaws in a gene designed to control the workings of an enzyme that, in turn, helps the body metabolize B 12. The article gives a name to Max's disease — cblX — because the gene is on the X chromosome.


"This discovery will lead to the correct diagnosis of this serious genetic disorder and will change the way that genetic counseling is given in these families," says study co-author David Rosenblatt, MD, with the Research Institute of the McGill University Health Centre. "It also helps explain how vitamin B 12 functions in the body, even for those without the disorder."

The research moves matters to a new phase, Van Hove says, because "if you have some idea about how the system works, that is the beginning of providing more logical treatment." The next step, Shaikh adds, "is to determine how mutations in the gene lead to the symptoms seen in patients with cblX in hopes of better understanding the disease and – some day – being able to head it off or treat it." For Shaikh, the discovery has meant more than solving a genetic puzzle."Laboratory researchers like me don't normally get to meet the people affected by their research. It's been a privilege to meet the Watsons," he says. "They are an amazing family."

When Max's sister Abbey—a star athlete —visited the lab investigating her brother's disease, Shaikh and his team embraced her curiosity and let her join the quest. Max's mother and father, Deana and Steve Watson, grateful to Children's hospital for the care Max received and to CU for leading the research, have done whatever was needed to support the project.

But it hasn't been easy and the discovery doesn't alter Max's condition. Max needs full assistance in all aspects of daily care, including a specialized wheelchair and devices to help him stand and move to a bed. Unable to be in a classroom, he attends school via live internet – to the delight of classmates who talk with him on the screen and know his favorite color is yellow.

"We're pretty realistic about all of this," Deana says. "The whole reason we have from the beginning agreed to any sort of studies is that maybe some day, with Max's findings, another family won't be in this situation. We're OK with that and proud Max is playing a part with that."

Abstract
Derivatives of vitamin B12 (cobalamin) are essential cofactors for enzymes required in intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by the accumulation of methylmalonic acid and/or homocysteine in blood and urine. The most common inborn error of cobalamin metabolism, combined methylmalonic acidemia and hyperhomocysteinemia, cblC type, is caused by mutations in MMACHC. However, several individuals with presumed cblC based on cellular and biochemical analysis do not have mutations in MMACHC. We used exome sequencing to identify the genetic basis of an X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia, designated cblX. A missense mutation in a global transcriptional coregulator, HCFC1, was identified in the index case. Additional male subjects were ascertained through two international diagnostic laboratories, and 13/17 had one of five distinct missense mutations affecting three highly conserved amino acids within the HCFC1 kelch domain. A common phenotype of severe neurological symptoms including intractable epilepsy and profound neurocognitive impairment, along with variable biochemical manifestations, was observed in all affected subjects compared to individuals with early-onset cblC. The severe reduction in MMACHC mRNA and protein within subject fibroblast lines suggested a role for HCFC1 in transcriptional regulation of MMACHC, which was further supported by the identification of consensus HCFC1 binding sites in MMACHC. Furthermore, siRNA-mediated knockdown of HCFC1 expression resulted in the coordinate downregulation of MMACHC mRNA. This X-linked disorder demonstrates a distinct disease mechanism by which transcriptional dysregulation leads to an inborn error of metabolism with a complex clinical phenotype.

Original press release: http://www.eurekalert.org/pub_releases/2013-09/uocd-pig090513.php