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Rare Disease Discoveries Showcased at UAMS

March 9, 2015 | March 9, 2015 | The fruitions of medical research were touted at a recent reception at UAMS focusing on rare diseases, including ALS and a form of non-Hodgkins lymphoma.

Showcase of Medical Discoveries: A Focus on Rare Diseases, the latest in a series from the UAMS College of Medicine, at the UAMS Winthrop P. Rockefeller Cancer Institute was attended Feb. 18 by about 100 researchers, physicians, staff, students and community members.

There were 13 research projects represented. Researchers from each project shared with inquisitive minds the ins and outs of their study.

“There is a good spectrum of research on display,” said Lawrence Cornett, Ph.D. UAMS vice chancellor for research. “It’s great to see so many here. We hope this will stimulate future collaborations.”

A research team led by Peter Crooks, Ph.D., professor and chairman in the Department of Pharmaceutical Sciences in the UAMS College of Pharmacy, was on hand to discuss the development of Valchlor, which is the first and only FDA-approved drug for treatment of mycosis fungoides (MF), the most-common form of cutaneous T-cell lymphoma, a rare form of non-Hodgkins lymphoma.

There is no cure for MF and its cause is unknown. The disease, which occurs in 1 per 100,000 people, presents as skin lesions that develop into tumors. The FDA-approved drug, Valchlor, is a topical treatment that stabilizes mechlorethamine, a chemical used for treatment of Hodgkins disease, to prevent it from entering a patient’s bloodstream.

Sixty percent of patients who have received topical application of Valchlor have seen a 50 percent improvement rate. Forty-eight percent of patients have achieved complete skin remission within a year of treatment.

Mahmoud Kiaei, Ph.D., assistant professor in the Department of Neurobiology and Developmental Science in the UAMS College of Medicine, directs a research laboratory on motor neuron disease or commonly known as Lou Gehrig’s disease.

He discussed his recent breakthrough in development of mice with amyotrophic lateral sclerosis-like disease to investigate how nerve cells die in motor neuron disease and to test therapeutic strategies for ALS therapy development.

ALS is responsible for 30,000 deaths worldwide, including 8,000 in the United States. The neuromuscular disease was discovered 140 years ago, however, there is still no cure or effective therapy for patients.

“We now, at UAMS, have developed perhaps the second-best mouse model for ALS,” Kiaei said.

The mice used in the research showed noticeable features of ALS, recapitulating signs, symptoms and pathological hallmarks of human ALS disease.

“This is a novel tool and compounds created here at UAMS are being used to study the molecular underpinnings of motor neuron degeneration and cytoskeletal defects in ALS and to test new drugs,” Kiaei said.

The Showcase of Medical Discoveries evolved from discussions among College of Medicine faculty about increasing opportunities for social interaction regarding scientific studies and research. The next showcase, scheduled for this summer, will pertain to aging research.

Posters at the showcase, using text and graphics, described the work of the several research projects on display. They were:

• Alpha-1 Antitrypsin Deficiency Community Members Describe Social Burdens: Informing Clinical Practices, Conceptual Framework &
  

  About 100 researchers, physicians, staff, students and community members attended the Showcase of Medical Discoveries: A Focus on Rare Diseases on Feb. 18.

  Psychometric Development in Rare Genetic Conditions

Researchers: Pamela Holtzclaw Williams, J.D., Ph.D., R.N.; Charlie Strange, M.D.; Natalie Dumont, B.S.; Sara Wienke, M.S.N., R.N.; Deirdre Walker; Lucinda Shore, M.S.; Jim Quill; Marvin Sineath; Barbara Warner

• New Genes Causing Osteoporosis and Brittle Bone Disease

Researchers: Roy Morello, Milena Dimori, Sarah Zimmerman and Melissa Heard

• Clinical Trials of HIV-related Kaposi’s Sarcoma: The AIDS Malignancy Consortium Experience

Researchers: Jeannette Y. Lee, Ph.D.; Page Moore, Ph.D.; Stephen Erickson, Ph.D.; and Shelly Lensing

• Assessing the Role of BB0345 during Borrelia Burgdorferi Mammalian Infection

Researcher: Jon Blevins, Ph.D.

• Valchlor: An Approved FDA Drug for Treatment of Mycosis Fungoides, Cutaneous T-cell Lymphoma

Researchers: Zaineb A.F. Albayati, Abeer M. Al-Ghananeem, Vipin P. Nair, Sundar Neelakantan, David R. Worthen, Guangrong Zheng, Marhaba Hojahmat and Peter A. Crooks

• miR-183 Over-expression: A Potential Biomarker for Juvenile Myelomonocytic Leukemia (JMML)

Researchers: Y. Lucy Liu, Yan Yan, Shelly Y. Lensing, Todd Cooper and Peter D. Emanuel

• Rare Diseases: Making the Best Use of Sparse Data

Researchers: M. Brochhausen, B. Jiang, A. Hicks and U. Topaloglu

• Sickle Cell Disease in Pregnancy

Researchers: Jonathan Chang, M.D.; Sarah Rhoads Kinder, Ph.D., D.N.P., A.P.R.N.; Hari Eswaran, Ph.D.; Amit Saha, M.S.; Heath Gauss, M.S.; and Everett Magann, M.D.

• Natural History Study of Patients with Arterial Tortuosity Syndrome

Researcher: Tiffany Lepard Tassin, M.S., C.G.C.

• Development of Novel ALS. Mouse Model with Mutant Profilin1 for Mechanistic and Therapeutic Studies

Researchers: Shilpi Yadav, Michael Cozart, Awantika Singh, Cesar M. Compadre, Noel, Y., Calingasan, Flint M. Beal and Mahmoud Kiaei

• Cholesterol-enriched Diet Alters Hippocampal Spine Density and Dendritic Morphology in a Murine Model of Familial Hypercholesterolemia

Researchers: A.R. Allen, J.E. Anderson, R. Farris, J. Wang, P.T. Palade, E.T. Price

• Resection and Hyperthermic Intrapleural Chemoperfusion for Recurrent Thymic Malignancy

Researchers: C.K. Lu, K. Arnaoutakis, M. Maraziti, D. Gabel-Maraziti, M.A. Steliga

• Low Bone Mass in Down Syndrome Patients: A Rare Bone Disease?

Researchers: Archana Kamalakar, Diarra K. Williams, Nisreen S. Akel, Tristan W. Fowler, Frances L. Swain, Kent D. McKelvey, Dana Gaddy, Larry J. Suva