Stories about: microcephaly

Mutant ferrets and kids with microcephaly shed light on brain evolution

Posted on by
Posted in Science
More On: , , , , , ,
ASPM, ferrets, microcephaly and brain evolution
Fawn Gracey illustration

Mouse brains are tiny and smooth. Ferret brains are larger and convoluted. And ferrets, members of the weasel family, could provide the missing link in understanding how we humans acquired our big brains.

Children with microcephaly, whose brains are abnormally small, have a part in the story too. Microcephaly is notorious for its link to the Zika virus, but it can also be caused by mutations in various genes. Some of these genes have been shown to be essential for growth of the cerebral cortex, the part of our brain that handles higher-order thinking.

Reporting in Nature today, a team led by Christopher A. Walsh, MD, PhD, of Boston Children’s Hospital and Byoung-Il Bae, PhD, at Yale University, inactivated the most common recessive microcephaly gene, ASPM, in ferrets. This replicated microcephaly and allowed the team to study what regulates brain size.

“I’m trained as a neurologist, and study kids with developmental brain diseases,” said Walsh in a press release from the Howard Hughes Medical Institute, which gave him a boost to his usual budget to support this work. “I never thought I’d be peering into the evolutionary history of humankind.” …

Read Full Story | Leave a Comment

Galloway-Mowat mutations have dual target: kidney cells, neurons

Posted on by
Posted in Science
More On: , , , , , , ,
Evidence of disease in GAMOS patients
Disease phenotype of GAMOS patients. Left: Kidney cells show signs of nephrotic syndrome. Right: Anomalies in brain development

With the help of more than 100 clinical collaborators around the world, Friedhelm Hildebrandt, MD has received thousands of blood samples from patients with nephrotic syndrome. They have helped Hildebrandt’s lab determine several underlying causes of this serious kidney disorder, in which high levels of protein are expelled in the urine.

“Nephrotic syndrome is not one disease; in fact, we already know that it is 55 different diseases,” says Hildebrandt, chief of the Division of Nephrology at Boston Children’s Hospital.

Over the course of time, Hildebrandt’s lab has discovered 35 of the more than 55 genes that can cause nephrotic syndrome. Identifying the different genetic pieces of the puzzle can help tailor a precision medicine approach to treating patients.

The latest piece, published earlier this month in Nature Genetics, is a set of four single-gene mutations that cause Galloway-Mowat syndrome (GAMOS) a rare disorder causing early-onset nephrotic syndrome and, often, microcephaly (abnormally small head size). Until now, the genetic changes underlying GAMOS and why they affect two disparate organs — the brain and kidney — have not been well understood.  …

Read Full Story | Leave a Comment

Tracking Zika? Use HealthMap

Posted on by
Posted in Information technology, Innovation
More On: , , , ,

Like a virus, the story of Zika virus in the Americas is evolving very, very rapidly. Just in the last week we’ve seen:

To help public health investigators, policy makers, epidemiologists and others keep up with the virus, the team at HealthMap has released a dedicated Zika virus tracking resource at http://www.healthmap.org/zika/. The new map brings in Zika-related information and news from a variety of sources in near real-time, and includes a constantly updated interactive timeline of the virus’s explosive spread across South and Central America.

The HealthMap team is also providing regularly updated coverage of the Zika virus outbreak on their Disease Daily blog.

Read Full Story | Leave a Comment

Q&A: Mosquitos, Zika virus and microcephaly in Brazil

Posted on by
Posted in Pediatrics, Q&A
More On: , , ,

mosquito-Thriving

As you may have heard, Brazil is facing a startling outbreak of microcephaly, a rare condition in which a child is born with a head and brain that are much smaller than normal. Microcephaly is almost always associated with neurologic impairment and can be life-threatening.

The epidemic has been linked to an influx of the mosquito-borne virus Zika, first detected in Brazil last April. This past Friday, January 16, the Centers for Disease Control and Prevention issued travel warnings advising pregnant women to avoid visiting El Salvador, French Guiana, Guatemala, Haiti, Honduras, Martinique, Mexico, Panama, Paraguay, Suriname, Venezuela and Puerto Rico. And over the weekend, the first U.S. case of microcephaly linked to Zika reportedly surfaced in Hawaii.

Why this virus, why now? And how can a virus affect someone’s head size? In this Q&A on our sister blog, Thriving, Ganeshwaran Mochida, MD, of Boston Children’s Brain Development and Genetics (BrDG) Clinic, who specializes in microcephaly, and Asim Ahmed, MD, an infectious disease specialist at Boston Children’s, offer their insights.

Read Full Story | Leave a Comment

Saving Grace: A whodunit solved with clues from the Middle East

Posted on by
Posted in Diagnostics, Pediatrics
More On: , , , , ,
microcephaly
Microcephaly causes small head size, seizures, developmental delays and intellectual disabilities. Did the Lennons’ unborn child have it?

Addison Lennon met all her early milestones: she sat up on time, crawled on time and walked on time.  At about 4 months, however, she had a seizure, and her parents started to worry. By 9 months, her head appeared small for her age.

Her neurologist reassured the family that Addison could still be within the lowest 5 percent of the normal range. “We were thinking she was typical,” says Kari Lennon, “she would be in that 5 percent.”

At 15 months, however, Addison had another seizure that was a lot more severe.  She had been tested for everything.  No one could pinpoint the cause of her so-called microcephaly, or small head.

Kari spent countless hours online in search of answers.  “How I could fix Addie? How could I make her better?” (Read on, or watch this video:)

…

Read Full Story | Leave a Comment