Menkes Disease News and Research

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UAB and Menkes International Association sign a donation agreement to boost research in Menkes disease

These funds, coming from the Menkes International Association, will allow a research project to search for new biomarkers to establish administration and monitoring protocols for a new drug that could improve the lives of children suffering from this rare disease.

29 Nov 2022

Texas A&M team continues research on the potential cure for Menkes disease

A life-saving cure solution for Menkes Disease, a copper deficiency in young children, is at the center of a licensing agreement by the The Texas A&M University System, through the Intellectual Property and Commercialization office of Texas A&M AgriLife Research, and a California-based biopharmaceutical company, Engrail Therapeutics.

3 Mar 2022

Texas A&M study offers hope for young children diagnosed with Menkes disease

A Texas A&M AgriLife Research team has good news for patients with copper-deficiency disorders, especially young children diagnosed with Menkes disease.

9 May 2020

Chemist explores link between Alzheimer's and copper protein molecules in brain cells

A University of Houston chemist is exploring the link between copper protein molecules in brain cells and neurodegenerative diseases like Alzheimer's.

17 Sep 2019

New discovery may lead to targeted treatment for copper metabolism disorders

Individuals with defects in copper metabolism may soon have more targeted treatment options thanks to a discovery by a research team led by Dr. Vishal Gohil of Texas A&M AgriLife Research in College Station.

31 Jul 2018

Scientists discover how potential new drug targets spinal muscular atrophy

Spinal muscular atrophy (SMA) is a genetic disease that can leave infants with weak muscles and trouble breathing. Many with the disease die before age two. To help these patients, doctors need therapies that target the genetic mutation and stop its progression.

8 May 2018

Study lays groundwork for PET imaging studies on human Menkes disease

Scientists at the RIKEN Center for Life Science Technologies have used PET imaging to visualize the distribution in the body of copper, which is deregulated in Menkes disease, a genetic disorder, using a mouse model. This study lays the groundwork for PET imaging studies on human Menkes disease patients to identify new therapy options.

26 Mar 2014

Zebrafish-yeast approach for studying copper deficiency, complex multifactorial diseases

Copper deficiency diseases can be devastating. Symptoms can range from crippling neurological degeneration in Menkes disease ,a classic copper deficiency disease to brittle bones, anaemia and defective skin pigmentation in gastric bypass patients. Unfortunately, very little is known about how the body uses this essential nutrient. Knowing that melanocytes (the cells that give rise to hair, skin and eye pigmentation) are dramatically affected by the effects of copper deficiency, Elizabeth Patton from the University of Edinburgh, UK, and other colleagues from UK and US based labs decided to find out how melanocytes metabolise copper.

17 Aug 2010

Deadly genetic disease prevented before birth in zebrafish with genetic patch

By injecting a customized "genetic patch" into early stage fish embryos, researchers at Washington University School of Medicine in St. Louis were able to correct a genetic mutation so the embryos developed normally.

24 Mar 2008

Australian researcher unveils pregnancy mystery

Belinda Hardman completed the study for her PhD with Deakin's Centre for Cellular and Molecular Biology under the supervision of Dr Leigh Ackland.

5 Mar 2007

Researchers discover how genes and diet interact to cause birth defects

Expectant mothers may someday get a personalized menu of foods to eat during pregnancy to complement their genetic makeup as a result of new research at Washington University School of Medicine in St. Louis.

8 Aug 2006

Atp7a determines a hierarchy of copper metabolism essential for notochord development

A new study reveals the timing of developmental events that critically depend on copper. While copper deficiency is rare in humans, the findings suggest that suboptimal copper metabolism might contribute to birth defects, according to the researchers.

8 Aug 2006