02a

Alzheimer’s Disease In Down Syndrome

By Norberto Alvarez, MD Overview Alzheimer disease (AD) is the most common form of dementia. AD is a progressive degenerative disease of the brain, strongly associated with advanced age. However, it should not be considered a part of the normal aging process. AD is characterized by a relentless progression of symptoms associated with defined neuropathologic changes. Individuals with Down syndrome (DS), or trisomy 21, develop a clinical syndrome of dementia with clinical and neuropathologic characteristics […]

ep-1

Breaking Barriers Clinical Trial Program

HOPE FOR THE HUNTER SYNDROME COMMUNITY A clinical trial program is now enrolling patients for its second cohort in a Phase 1/2a study in Hunter syndrome, a rare, hereditary, lysosomal storage disease. The clinical trial is called Breaking Barriers, and explores AGT-182, an investigational enzyme replacement therapy (ERT) that utilizes the body’s natural system for transporting products across the blood-brain barrier (BBB) by targeting the receptor that delivers insulin to all cells of the body, […]

cropped-cropped-cropped-dredf-3

Creating A Family History Tree

Much like Kathleen did, families have the ability to trace their family health history. The tree can include everything from information on heredity, diet, work, activities and environment. GENETIC ALLIANCE BY BY CLAIRE MENA Dr. Kathleen Mimnagh, MD was doing a pediatric genetics rotation in medical school when a geneticist noticed her hand as she inserted an IV. He asked her to do a maneuver that stretched her thumb across her palm. Kathleen’s thumb, unlike […]

15134757_1487149277966018_4096600733450908055_n

Individuals With Disabilities In Russia

AMERICAN ACADEMY OF DEVELOPMENTAL MEDICINE & DENTISTRY BY H. BARRY WALDMAN DDS, MPH, PHD, STEVEN P. PERLMAN DDS, MSCD, DHL (HON) AND MATTHEW COOKE, DDS, MD, MPH “During the 1980 Olympic games in Moscow, a Western journalist inquired whether the Soviet Union would participate in the first Paralympic games, scheduled to take place in Great Britain later that year. The reply from a Soviet representative was swift, firm, and puzzling: “There are no invalids in […]