Archives for May 2010

10 Things to be Aware of on NF Awareness Day

May is NF Awareness Month, and in a particular effort to help get the word out about NF, today — Thursday, May 20th — is NF Awareness Day.

NF Awareness Day

Neurofibromatosis (NF) is a genetically inherited disorder that predisposes individuals to the development of a variety of benign and malignant tumors in the central and peripheral nervious systems. The disorder affects neural crest cells and causes tumors to grow along various types of nerves and can also affect the development of bones and skin.

Neural crest cells: specialized cells that contribute to the formation of multiple tissues, including sensory nerves, the enteric nervous system that controls the gut, pigment cells of the skin, various skeletal and connective tissue of the head, and part of the valves and blood vessels of the heart. During early development, neural crest cells — a transient, multipotent cell population — migrate to many different locations and differentiate into many cell types within the embryo.

The Children’s Tumor Foundation (CTF) is the leading non-governmental funder of scientific research into neurofibromatosis. The CTF has funded NF research for over 25 years with the goal of identifying NF drug therapies and improving the lives of those living with the disorder. The Foundation also endeavors to increase public awareness of NF and provides resources for NF patients and their families. Straight from the CTF, here are ten things to be aware of about NF:

Information on Gum Disease Now Available on NIHSeniorHealth.gov

Good oral health is key to quality of life. When your mouth is healthy, you can eat the foods you need for good nutrition and can feel better about smiling, talking, and laughing. However, periodontal (gum) disease — an infection of the gums and tissues that hold teeth in place — can harm oral health and is a leading cause of tooth loss among older adults. Because it’s an important topic for seniors, a section on gum disease has just been added to NIHSeniorHealth.gov. It’s the premier health and wellness website for older adults developed by the National Institute on Aging (NIA) and the National Library of Medicine (NLM), both part of the National Institutes of Health.

“The new periodontal disease section on NIHSeniorHealth.gov is an excellent source of easy-to-understand information that will help older people learn about periodontal disease and how they can prevent it,” said Lawrence A. Tabak, D.D.S., Ph.D., director of NIH’s National Institute of Dental and Craniofacial Research. “Periodontal disease does not have to be a part of aging. Proper dental hygiene and regular dental visits can help people reduce their chance of developing periodontal disease as they age.”

Endometrial Stem Cells Restore Brain Dopamine Levels

Endometrial stem cells injected into the brains of mice with a laboratory-induced form of Parkinson’s disease appeared to take over the functioning of brain cells eradicated by the disease.

The finding raises the possibility that women with Parkinson’s disease could serve as their own stem cell donors. Similarly, because endometrial stem cells are readily available and easy to collect, banks of endometrial stem cells could be stored for men and women with Parkinson’s disease.

“These early results are encouraging,” said Alan E. Guttmacher, M.D., acting director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the NIH Institute that funded the study. “Endometrial stem cells are widely available, easy to access and appear to take on the characteristics of nervous system tissue readily.”

Parkinson’s disease results from a loss of brain cells that produce the chemical messenger dopamine, which aids the transmission of brain signals that coordinate movement.

This is the first time that researchers have successfully transplanted stem cells derived from the endometrium, or the lining of the uterus, into another kind of tissue (the brain) and shown that these cells can develop into cells with the properties of that tissue.

Patient’s Whole Genome Reveals Risk of Diseases and Adverse Drug Responses

Scientists at Stanford and Harvard Universities collaborated to assess the clinical usefulness of analyzing a patient’s full genome for disease risks and unusual drug responses. The work brings closer to reality the concept that whole-genome sequencing might one day play a clinical role.

The analysis, which was supported by the National Institutes of Health (NIH), appears in the May 1, 2010 issue of Lancet.

The authors evaluated the entire genome of a 40-year old man and compared it to several databases of disease-related gene variants. They also factored in the patient’s medical and family history and statistical disease risks. As part of the work, the researchers provided the patient with genetic counseling and clinical tests relevant to his family history.

The genome analysis revealed variants associated with diseases in the man’s family (osteoarthritis, vascular disease and early sudden death). It also uncovered variants linked to conditions not in his family (iron overload and thyroid and parathyroid diseases). Some variants suggested that he might have unusual responses to certain heart medications, which is meaningful in light of his risk for cardiovascular disorders.