The First International Meeting of Moebius Syndrome will be held May 16-17, 2008, in Valencia, Spain. Moebius syndrome includes facial paralysis, low muscle tone, and hand and foot deformities. The conference, held in English and Spanish, will focus on medical and treatment issues related to Moebius syndrome as well as living with Moebius syndrome, including the personal experiences of affected people.

The Genetic Information Nondiscrimination Act of 2007 was created to prohibit discrimination on the basis of genetic information with respect to health insurance and employment. For example, a health insurance company cannot require an individual to take a genetic test, nor can it increase the premium for someone with a genetic disorder.

On May 1, 2008, the U.S. House of Representatives version of the bill, H.R.493, was passed by a 414-1 vote. The Senate version of the bill, S.358, was passed the previous week by a 95-0 vote. The lone dissenter in Congress was Rep. Ron Paul (R-Texas).

The bill now heads to the White House. President Bush is expected to sign the bill into law.

Norrie disease is an inherited disorder that leads to blindness at birth or soon after, hearing loss, and developmental delay. Mutations in the NDP gene on the X chromosome cause Norrie disease.

Photo © A.D.A.M.

Two studies published online on April 27, 2008, in The New England Journal of Medicine report results of gene therapy treatment for Leber congenital amaurosis (LCA), an inherited retinal degenerative disorder that causes an infant to be born with severely impaired vision. Two separate research teams each treated three individuals with LCA. One study showed no change in patients' visual acuity, but all three patients in the other study found a gain in visual acuity. The ability to see things, however, is based on a person's perception, so it is possible that any improved vision was not due to the gene therapy. An accompanying editorial in the medical journal also states that measuring visual acuity in people with very low vision (like those in the two studies) is not reliable.

What it all means: the results indicate the gene therapy procedure is safe, and it might have some benefits, but larger groups of people with LCA need to be studied for longer periods of time to get better information about this possible treatment.

Bainbridge, James et al. "Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis." The New England Journal of Medicine (2008): ePub.

Maguire, Albert et al. "Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis." The New England Journal of Medicine (2008): ePub.

Takayasu arteritis is a serious chronic inflammatory disease of the large arteries, usually affecting the aorta and its large branches. It is estimated that Takayasu arteritis affects about only 3 people of every million individuals throughout the world. It affects people of all ethnic backgrounds but is most common among Asian females of childbearing age.

Photo © A.D.A.M.

National DNA Day is sponsored by the National Human Genome Research Institute (NHGRI). According to the Web site, National DNA Day is a unique day when students, teachers and the public can learn more about genetics and genomics. It was created to commemorate the completion of the Human Genome Project in April 2003, and the discovery of DNA's double helix. The NHGRI has many activities planned for National DNA Day, including a live online chatroom. Students, teachers, and anyone interested can chat with leading researchers in the field of genetics.

• Learn more about National DNA Day
• Learn more about genes, DNA, and chromosomes

Treacher Collins syndrome is a genetic disorder of chromosome 5 that causes birth defects of the head and face. Mutations in the TCOF1 gene cause the syndrome. A few years ago I provided nursing care for a little girl with Treacher Collins syndrome whose mouth and jaw defects were severe enough to cause problems with her breathing.

The Associated Press reports that a baby named Lali, born in the village of Saini in north India with a very rare condition, is doing well. Lali was born on March 11, 2008, with craniofacial duplication (diprosopus), which resulted in her having two faces--two pairs of eyes, two noses, and two mouths. The condition can lead to serious health problems, but Lali appears to be healthy for now. According to Sabir Ali, the director of nearby Saifi Hospital, Lali has no breathing difficulties and there is no need for surgery, the AP reported. "She drinks milk from her two mouths and opens and shuts all the four eyes at one time," Dr. Ali said. ABCNews has a photo of little Lali. Her parents have declined to allow her to undergo a computed tomography (CT) scan at the hospital to see if she has any other birth defects.

Because of her appearance, Lali was at first revered as a reincarnation of the god Ganesh, half person and half elephant. People from all over came to the village of Saini to touch her feet, dance around her and offer her family money.

• Read the ABCNews story about Lali

Toxic epidermal necrolysis (TEN) is a potentially life-threatening immunological skin disorder that may occur in males or females of any age or ethnic background. TEN may be caused by infection or tumors. The most common cause of toxic epidermal necrolysis, though, is a reaction to a drug.

Reuters Health reports that the International Contergan Thalidomide Alliance (ICTA), a group for victims of thalidomide treatment, is seeking 4 billion euros ($6.3 billion) in compensation from the German manufacturer of the drug, Grunenthal, and the German government. Thalidomide, sold in the 1950s under the brand names Contergan and Distaval, was used to treat morning sickness in pregnant women in at least 46 countries. In many cases, babies affected by thalidomide did not survive; those who did often had severe birth defects such as shortened arms or legs (phocomelia), deafness, blindness or gastrointestinal defects.

Although Grunenthal paid a settlement in the 1970s, not all victims received adequate compensation, and the 3,500 victims still alive today are finding they need more financial support.

• Book review: Dark Remedy: The Impact of Thalidomide and Its Revival as a Vital Medicine
• The return of thalidomide: how it's being used today for treatment
• Drug information about thalidomide