Microcephaly News and Research

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Measuring head circumference (also known as occipito-frontal circumference) is a significant part of the proper evaluation of a child’s growth and development, as it represents a direct indication of head growth. Therefore deviations from normal head growth may reveal certain congenital or acquired problem.

Scientists develop complex human brain tissue in 3D culture system

Complex human brain tissue has been successfully developed in a three-dimensional culture system established in an Austrian laboratory. The method described in the current issue of NATURE allows pluripotent stem cells to develop into cerebral organoids - or "mini brains" - that consist of several discrete brain regions.

29 Aug 2013

Risk for childhood cancer moderately increased among adolescents with major birth defects

A multistate study led by researchers at the University of Utah has revealed that the risk for childhood cancer is moderately increased among children and young adolescents with certain types of major birth defects.

12 Aug 2013

TUBB5 gene responsible for microcephaly: IMP study

Neurobiologists at the Research institute of Molecular Pathology (IMP) in Vienna have discovered one of the key genes required to make a brain. Mutations in this gene, called TUBB5, cause neurodevelopmental disease in children.

14 Dec 2012

Researchers solve mystery of radial glial cells

Researchers at Cold Spring Harbor Laboratory (CSHL) have solved an important piece of one of neuroscience's outstanding puzzles: how progenitor cells in the developing mammalian brain reproduce themselves while also giving birth to neurons that will populate the emerging cerebral cortex, the seat of cognition and executive function in the mature brain.

24 Sep 2012

Study reveals why human brain is large and more complex than that of other animals

Researchers have found what they believe is the key to understanding why the human brain is larger and more complex than that of other animals.

17 Aug 2012

Orc1 mutations may explain pathology in manifestations of Meier-Gorlin syndrome

Research published Aug. 1 by scientists at Cold Spring Harbor Laboratory (CSHL) links gene mutations found in some patients with Meier-Gorlin syndrome (MGS) with specific cellular dysfunctions that are thought to give rise to a particularly extreme version of dwarfism, small brain size, and other manifestations of abnormal growth which generally characterize that rare condition.

1 Aug 2012

Researchers discover new gene linked to MLCRD

Researchers have found a new gene that, when mutated, can lead to lymphoedema (swollen limbs) as part of a rare disorder that can also cause problems with eye and brain development. This is the fourth lymphoedema-related gene found by the same researchers in three years, and the first linked to the eyes and brain. They say it could lead to better diagnosis and treatment for lymphoedema, an area that has been poorly understood previously.

27 Jan 2012

Study examines quantity, frequency and timing of alcohol consumption during pregnancy

Prenatal exposure to alcohol is associated with a spectrum of abnormalities, referred to as Fetal Alcohol Spectrum Disorders. Physical features of the more serious Fetal Alcohol Syndrome (FAS) include smooth philtrum, thin vermillion border, short palpebral fissures, microcephaly, and growth deficiencies in weight and height. A new study has specified how specific quantities of alcohol exposure, patterns of drinking, and timing of exposure can have an impact on each of these features.

17 Jan 2012

ASHG to honor U of U geneticist with William Allan Award

As a teenager just moved to Iowa from war-ravaged Germany in 1951, John M. Opitz, M.D., wanted to study developmental biology, but his "very Prussian" mother insisted he go to medical school instead.

12 Oct 2011

NIH awards $13M grant to BMC for brain abnormality study in former ELGANS

Researchers and clinicians from Boston Medical Center (BMC) have been awarded a four year, more than $13 million grant from the National Institutes of Health (NIH) to study neurological and brain abnormalities in former extremely low gestational age newborns.

12 Sep 2011

Scientists discover genetic cause of extreme thinness

Scientists have discovered a genetic cause of extreme thinness for the first time, in a study published today in the journal Nature.

2 Sep 2011

Study unveils surprising mechanism that controls brain formation

A study from The Scripps Research Institute has unveiled a surprising mechanism that controls brain formation. The findings have implications for understanding a host of diseases, including some forms of mental retardation, epilepsy, schizophrenia, and autism.

10 Feb 2011

New diagnostic tool proves cost-effective in identifying rare genetic disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.

23 Aug 2010

UCSF scientists discover new stem cell in developing human brain

UCSF scientists have discovered a new stem cell in the developing human brain. The cell produces nerve cells that help form the neocortex - the site of higher cognitive function -- and likely accounts for the dramatic expansion of the region in the lineages that lead to man, the researchers say.

26 May 2010

New analysis reveals high rates of CNS disorders in autistic children

Nearly two-thirds of the children with Autistic Spectrum Disorders recorded in the National Birth Defect Registry (NBDR) also suffer from structural birth defects, according the national nonprofit, Birth Defect Research for Children (BDRC).

20 Jan 2010

Common variations in genes associated with microcephaly may explain differences in brain size

A group of Norwegian and American researchers have shown that common variations in genes associated with microcephaly - a neuro-developmental disorder in which brain size is dramatically reduced - may explain differences in brain size in healthy individuals as well as in patients with neurological and psychiatric disorders.

22 Dec 2009

Call for every health insurance plan to cover Phenylketonuria

Credit Senators John Kerry (D-MA) and Robert Casey (D-PA) with a significant contribution to the health care debate: a bill ends a glaring disparity in the way Americans living with Phenylketonuria (PKU) control their potentially devastating disease, and the way others living with serious chronic conditions are treated. "The Medical Foods Equity Act of 2009" aims to save affected families thousands of dollars in out-of-pocket costs, cut long-term costs for the entire system, and offer 20,000 Americans a better shot at healthy, happy, and productive lives.

5 Dec 2009

$1.2 million grant to study centrosomes and cilia and their connections to human disease

If you don't know how a human cell is supposed to work, it's hard to offer a good explanation when the cell goes haywire -- as it does in cancer. That's why a Florida State University College of Medicine researcher has been awarded a $1.2 million grant to explore the role of centrosomes and cilia in cell division and development and their connections to human disease.

22 Sep 2009

Children with microcephaly should be screened for neurologic and cognitive problems, says guideline

A new guideline from the American Academy of Neurology, developed in full collaboration with the Child Neurology Society, finds that children with microcephaly that is, children whose head size is smaller than that of 97 percent of childrenare at risk of neurologic and cognitive problems and should be screened for these problems. The guideline is published in the September 15, 2009, issue of Neurology®, the medical journal of the American Academy of Neurology.

15 Sep 2009

Study shows how defective DNA repair triggers 2 neurological diseases

Scientists at St. Jude Children's Research Hospital have teased apart the biological details distinguishing two related neurological diseases-ataxia telangiectasia-like disease (ATLD) and Nijmegen breakage syndrome (NBS).

15 Jan 2009