Newswise — Feb. 28 is Rare Disease Day. There are more than 7,000 rare diseases, each one affecting fewer than 200,000 patients in the United States. Because of their rarity, these diseases, many of which are genetic, are not generally well studied. Sometimes they are referred to as orphan diseases. In observance of Rare Disease Day, the American Society for Biochemistry and Molecular Biology offers these news tips on recent research into rare diseases.

How to diagnose patients whom sequencing has failed

Sequencing fails to lead to a conclusive diagnosis in about half of patients with rare diseases. In a recent article in the journal Molecular & Cellular Proteomics, researchers demonstrated for the first time that proteomics could be used to zero in on genetic abnormalities in patients whose neutrophil immune cells don’t work properly, which puts them at a high risk of bacterial infections. The researchers looked for changes in the proteins, and then used those as a guide to find changes in the genes that code for these proteins. The work, diagnosed four new patients, and demonstrates the usefulness of combining multiple “omics” approaches in the clinic. You can read the article here.

How a protein's forms disrupt its function

Spinocerebellar ataxia type III, also called MJD, is a neurodegenerative disease that causes middle-age patients to begin to lose muscle control, gradually leading to paralysis. The problem has been traced to aggregation of a protein called ataxin-3, which normally directs the turnover of other proteins in neurons. Cells generate several types of ataxin-3, but how the types interact was not known. In a recent article in the Journal of Biological Chemistry, researchers at the University of Tübingen reported that different ataxin-3 types have different effects on other proteins’ turnover, and MJD patients have a different combination of variants than healthy volunteers. The authors write, “Our results highlight the importance of taking polymorphisms and isoforms of disease-causing proteins… in MJD and other autosomal-dominantly inherited disorders into consideration.” You can read the article here.

Biochemistry links rare diseases

A number of genetic diseases, including Niemann─Pick and Tay─Sachs diseases, are caused by failure of cells in the brain to break down a type of lipid called sphingolipids. When any one of a few enzymes involved in sphingolipid breakdown is mutated, the lipids accumulate in brain cells, causing severe developmental disorders. As researchers have come to understand more about the biochemistry of sphingolipid synthesis and their function in different tissues, they’ve begun to recognize that other genetic disorders also have a sphingolipid component. In a review article in the Journal of Lipid Research, researchers at the National Institutes of Health explain how rare conditions, as varied as skin lesion diseases and some forms of Parkinson’s, fit together. You can read their article here.


 About the American Society for Biochemistry and Molecular Biology

The ASBMB is a nonprofit scientific and educational organization with more than 11,000 members worldwide. Most members teach and conduct research at colleges and universities. Others conduct research in government laboratories, at nonprofit research institutions and in industry. The Society publishes three journals: the Journal of Biological Chemistry, the Journal of Lipid Research, and Molecular and Cellular Proteomics. For more information about ASBMB, visit