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Marshall students research cure for hereditary disease

On October 20, 2010

Two Marshall University students have been making efforts in research to find a new treatment for a hereditary disease.

Rachel Blake, senior biomedical science major, from Huntington W.Va., said she has been researching galactosemia, a genetic disease patients usually develop during birth.

Menashi Cohenford, Marshall University professor of integrated science and technology, said galactosemia can be compared to diabetes.

Galactosemia is a condition in which the body is unable to form the sugar galactose, according to A.D.A.M., Inc. Galactose is made up of two sugars, one of which is lactose that is normally found in milk, and the other is glucose. People with galactosemia cannot tolerate any form of milk because they are not able to break down the glucose and lactose.

"The two projects that I've worked on with Dr. Cohenford was a screening test for the disease that you could test infants for, and the second one was starting management tests, like the ones physicians use now, to manage diabetic patients," Blake said.

Patients are not able to break down the disease, and without treatment it will become fatal, she said.

Blake said she worked on a type of screening test to measure the level of galactose in patients to determine if they have galactosemia.

Cohenford said this type of testing is similar to tests that require diabetic patients to prick their finger to test their blood sugar level. The screening test Blake was working on allowed a way to look past the last couple of hours or days to see the actual exact blood sugar level. However, in this case, it measures a person's galactose level.

She was asked by Cohenford to work on the research along with Emily Beckelhimer, another Marshall student.

Cohenford previously worked on this kind of research before coming to Marshall and said he wanted to continue the research with the aid of students.

He said Blake was referred to him as a freshman because of her hard work, Blake said Cohenford was reluctant to the idea of her being an undergraduate student but found her to be dedicated to the work on galactose and the galactosemia disease.

Both Blake and Beckelhimer have presented at Pittcon, a conference in Atlanta, Ga., that showcases what is new in laboratory instrumentation, technology and supplies, according to the Pittcon website. They presented their project "A Novel Colorimetric Method for Measuring D-Galactose in Serum and Glycoconjugate", which is about their overall research on galactose.

Blake also presented the research she has done over the past two years to the West Virginia senators and legislators at the Undergraduate Research Day at the Capitol.

"This was a great opportunity to get paired with a professor and do that kind of research and have those kinds of opportunities to present what I've done and really take an active role with so little knowledge going in," Blake said.

Libby Clark can be contacted at


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