Dr. Teepu Siddique’s team discovers cause of ALS

CHICAGO,IL–Northwestern University researchers have discovered the cause of the Lou Gehrig’s disease (also known as ALS). The study’s lead author is Dr. Teepu Siddique, of Northwestern’s Feinberg School of Medicine and a neurologist at Northwestern Memorial hospital.

The study published in the prestigious Nature journal reveals that in the disease  the protein ubiquilin2 isn’t doing its job. As a result, the damaged proteins and ubiquilin2 loiter and accumulate in the motor neurons in the spinal cord and cortical and hippocampal neurons in the brain resembling twisted skeins of yarn and cause the degeneration of the neurons.

The researchers found ubiquilin2 in these skein-like accumulations in the spinal cords of ALS cases and in the brains of ALS/dementia cases.

Dr. Siddique has devoted his career as a clinician-scientist to the study and treatment of neuromuscular diseases, especially amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s Disease. He has directed the Neuromuscular Disorders Program/Neurogenetics Laboratory and the Les Turner ALS Foundation Laboratory at Northwestern since 1991.

Dr. Siddique led an international team that was the first to identify genes responsible for familial (inherited) forms of ALS: the SOD1 gene in 1993 and the ALS2, or alsin, gene in 2001. His laboratory also developed the first successful genetic mouse model of ALS in 1994. In 2008, his lab verified the existence of an X chromosome-linked gene (X-ALS) that may be involved in both ALS and ALS/dementia.

For his seminal work in ALS neurogenetics, Dr. Siddique received the first Sheila Essey Award from the American Academy of Neurology. Other honors include the Hope Through Caring Award from the Les Turner ALS Foundation, the Third Annual Eleanor and Lou Gehrig Award from the Columbia University College of Physician and Surgeons, and the Forbes Norris Award from the International Alliance of ALS/MND (Motor Neurone Disease) Associations.

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