Navigation Links
Genetic Eye Disorder Can Have Other Implications

Rare eye disorder from genetic sources can also be responsible for other effects in the brain and fetal cardiovascular development.

Researchers at Children’s Hospital Boston, who specialize in studying the genetics // of rare eye-movement disorders, have found a rare genetic syndrome whose implications go far beyond the eye, raising intriguing questions about human cardiovascular and brain development.

The syndrome involves a mutation to HOXA1, a gene that has been extensively studied in mice, but about which little is known in humans. HOXA1 belongs to a large family of HOX genes that govern very early embryonic development and the making of the body plan. HOXA1 is the first HOX gene turned on in mice, and presumably in the human body, and is involved in patterning of the growth of the head, face, and brainstem.

Mice that lack both copies of HOXA1 universally die. Until this study, no human HOXA1 mutation had ever been identified, and it was assumed that complete loss of HOXA1 function would be lethal. But the Children’s investigators, have found living people with two mutated copies of HOXA1 -- from three different parts of the world.

Researchers had been studying genetic disorders that interfere with peoples’ ability to move their eyes horizontally (left or right). Collaborators in Saudi Arabia alerted them to patients they’d been seeing who had not only restricted horizontal eye movement, but also deafness and motor impairments. The Saudi clinicians began to carefully reexamine their patients, while US researchers looked at the patients’ DNA to try to identify a causative gene.

All 9 patients with the syndrome (dubbed Bosley-Salih-Alorainy syndrome, or BSAS, after the Saudi discoverers) had horizontal gaze abnormalities. Eight were profoundly deaf, 3 had external ear defects, 7 had delayed motor development, and 2 met criteria for autism spectrum disorder with cognitive and behavioral impairment. In addition,
'"/>




Page: 1 2

Related medicine news :

1. Genetic Dentistry: Your Dentist may be able to grow you a new set of Teeth.
2. Genetic influence in menopause
3. Genetics and cholesterol levels
4. Genetics helps in attacking cancer
5. Genetic disorder related with sleep patterns
6. Genetic innovation
7. Genetic tests for cancer
8. Genetic indicates memory
9. Genetic mutation to the fountain of youth discovered
10. Genetic differences found between Male and Female brains
11. Alcoholism Influenced By Both Genetics & Family Environment
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Genetic Eye Disorder Can Have Other Implications

(Date:9/18/2014)... September 18, 2014 Alexandria, VA — ... today that 10 more communities have joined the growing ... health department accreditation. The decisions bring the number of ... 54. PHAB is the non-profit organization that administers the ... and protect the health of the public by advancing ...
(Date:9/18/2014)... 18, 2014 (HealthDay News) -- Rising temperatures in the ... spread to shallow waters that are becoming warmer, an ... reefs, ecologists report. A study of 40 species ... northward movement by the invasive and poisonous lionfish, according ... (NOAA) and the University of North Carolina-Wilmington, who published ...
(Date:9/18/2014)... "Medical staff need better ways to ... the patient's privacy," said one of two inventors from ... order to supply caregivers with the equipment they need ... prototype for The Helper to make it easier to ... patient onto his or her side. It also securely ...
(Date:9/18/2014)... One of the most capable and sophisticated ... ShandsCair Flight Program’s new EC155 B1, will be ... the Air Medical Transport Conference (AMTC), Sept. 22-24, in ... service ShandsCair EC155 and the Vanderbilt University LifeFlight ... highlight Airbus Helicopters broad, industry leading line-up of ...
(Date:9/18/2014)... HealthDay Reporter , THURSDAY, Sept. 18, 2014 (HealthDay ... patients seeking care at larger urban hospitals are likely to ... at smaller or more rural facilities, new research suggests. ... emergency care varies dramatically across hospitals in the United States," ... Renee Hsia, an associate professor at the University of California, ...
Breaking Medicine News(10 mins):Health News:Ten More Communities Reaping Benefits of National Accreditation 2Health News:Ten More Communities Reaping Benefits of National Accreditation 3Health News:Ten More Communities Reaping Benefits of National Accreditation 4Health News:Rising Atlantic Ocean Temperatures Could Pose Threat to Reefs 2Health News:Airbus Helicopters Inc. Features Industry-leading Models at AMTC 2Health News:Airbus Helicopters Inc. Features Industry-leading Models at AMTC 3Health News:Airbus Helicopters Inc. Features Industry-leading Models at AMTC 4Health News:ER Waiting Times Vary Significantly, Studies Find 2Health News:ER Waiting Times Vary Significantly, Studies Find 3
... ... a clinical trial that is testing whether specialized contact lenses can slow or halt ... and Robert Davis, working with EyeVis Eye and Vision Research Institute, recently reported on ... , ...
... Family Research Council President Tony Perkins responded to ... Obama,s executive order for federal funding of human embryonic ... the NIH guidelines remove life-protecting limits on federal funding ... , (Logo: http://www.newscom.com/cgi-bin/prnh/20080930/FRCLOGO ) ...
... ... a national leader in accounts receivable management, and collection services to the healthcare industry has ... in Vero Beach, Florida. , ... Vero Beach, FL (PRWEB) July 7, 2009 -- National healthcare receivables industry leader, Medical ...
... a Woman,s Right to Choose , , ARLINGTON ... breast reconstruction procedures performed in 2008, nearly 70 percent ... not informed of the reconstructive options available to them, ... by the American Society of Plastic Surgeons (ASPS) shows ...
... July 7 The Anthropedia Foundation, a non-profit organization ... Know Yourself , an innovative DVD series designed ... and healthier lives. The series is a step-by-step guide ... part focuses on straightforward concepts and simple exercises that ...
... sellers appears to reduce the trafficking of guns to ... the Johns Hopkins Bloomberg School of Public Health. Preventing ... 85 percent of guns recovered by police were recovered ... of the guns according to prior research from the ...
Cached Medicine News:Health News:Can a Contact Lens Cure Nearsightedness? Five-Year Clinical Study Testing Corneal Reshaping Therapy as Possible Method to Arrest Myopia 2Health News:Can a Contact Lens Cure Nearsightedness? Five-Year Clinical Study Testing Corneal Reshaping Therapy as Possible Method to Arrest Myopia 3Health News:NIH Stem Cell Guidelines Ethically Irresponsible, Scientifically Unworthy, Useless to Patients, Says Family Research Council 2Health News:Medical Data Systems, Inc. (MDS) Announces Operations Expansion and Opening of its Primary Collections Operations Office 2Health News:Medical Data Systems, Inc. (MDS) Announces Operations Expansion and Opening of its Primary Collections Operations Office 3Health News:Are Breast Cancer Patients Being Kept In The Dark? 2Health News:Knowing Yourself Can Improve Your Health and Happiness 2Health News:Knowing Yourself Can Improve Your Health and Happiness 3Health News:Regulation and oversight of gun sales reduces trafficking to criminals 2Health News:Regulation and oversight of gun sales reduces trafficking to criminals 3
(Date:9/18/2014)... Sept. 18, 2014   MacPractice,s MacPractice MD ... Complete EHR certification, which designates that the software is ... 1 and Stage 2 Meaningful Use measures required to ... Act (ARRA).  MacPractice MD MU version 5.0 was certified ... an Office of the National Coordinator-Authorized Certification Body (ONC-ACB) ...
(Date:9/18/2014)... --This BCC Research report discusses the medical device technologies in ... size, and opportunities for different devices and regions. It includes ... in the report focuses on technological trends in recent years ... and Japan . ... medical device technologies market. - Analyze market structure, including segments ...
(Date:9/18/2014)... , Sept. 18, 2014  KIYATEC announced ... million Small Business Innovation Research (SBIR) Phase II ... of the 27 institutes and centers that comprise ... course of the two year award, KIYATEC will ... two issues at the forefront of cancer therapy ...
Breaking Medicine Technology:MacPractice MD MU Achieves ONC HIT 2014 Edition Complete EHR Certification from ICSA Labs 2MacPractice MD MU Achieves ONC HIT 2014 Edition Complete EHR Certification from ICSA Labs 3MacPractice MD MU Achieves ONC HIT 2014 Edition Complete EHR Certification from ICSA Labs 4MacPractice MD MU Achieves ONC HIT 2014 Edition Complete EHR Certification from ICSA Labs 5Medical Devices: Technologies and Global Markets 2Medical Devices: Technologies and Global Markets 3Medical Devices: Technologies and Global Markets 4National Cancer Institute Awards KIYATEC Nearly $2M to Advance Predictive Cancer Diagnostics 2National Cancer Institute Awards KIYATEC Nearly $2M to Advance Predictive Cancer Diagnostics 3
... March 2007 - Cancer drug,developer Antisoma plc (LSE: ... from its second, confirmatory phase II,trial of AS1404 ... trial tested an 1800 mg/m2 dose of AS1404 ... response rate of 50%. A further 43% of,patients ...
... BioSciences,Inc., a specialty dermatology company, today announced the,publication of ... the journal,Cell by its co-founder and board member, David ... an important protein,p53, in the pigmentation of skin. Fisher's ... tumor suppressor in other cancers in,the body, p53 also ...
Cached Medicine Technology:Antisoma plc (UK) - Second lung cancer trial adds to positive data,on AS1404 2Antisoma plc (UK) - Second lung cancer trial adds to positive data,on AS1404 3Study in Cell by Magen BioSciences Co-Founder David E. Fisher,Identifies New Roles in Skin Cancer Prevention for Key Tumor,Suppressor Protein 2
... autoimmune testing feature single-well ANA screen and ... reflex tests including dsDNA, and 6 individual ... (La), Scl-70 and Jo-1. In addition, our ... of products for Cardiolipins (IgA, IgG, IgM), ...
... ELISA products for autoimmune testing feature single-well ... well as specific reflex tests including dsDNA, ... SS-A (Ro), SS-B (La), Scl-70 and Jo-1. ... a full line of products for Cardiolipins ...
... Laboratories is a national reference laboratory and ... and development. ARUP offers an extensive test ... tests in clinical and anatomic pathology. Owned ... clients include more than half of the ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
Medicine Products: