Birth Defects News
July 30, 2016

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More Birth Defects News
July 30, 2016

Study Verifies Human Gene Therapy in Model of Rare Metabolic Disorder

July 28, 2016 — Researchers are closer to finding a better way to treat children with a rare metabolic disorder called MPS ... read more

New Genetic Syndrome Tied to Defects in Protein Transport

July 28, 2016 — An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays. The ... read more

Successful Treatment for a Severe Case of Fetal Lung Disorder CPAM

July 28, 2016 — A successful treatment has now been conducted for the fetal lung disorder Congenital Pulmonary Airway Malformattion (CPAM), also known as Congenital Cystic Adenomatoid Malformation (CCAM). By ... read more

July 22, 2016 — Scientists have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial development ... read more

Shaken Baby Syndrome Accepted as Diagnosis by Majority of Physicians

July 22, 2016 — Survey data reveals a high degree of medical consensus that shaking a young child is capable of producing subdural hematoma (a life-threatening pooling of blood outside the brain), severe retinal ... read more

New Intellectual Disability Syndrome Caused by Genetic Damage to Single Gene

July 21, 2016 — Scientists have found a gene responsible for an intellectual disability disorder and proven how it works. The research, details the role of a gene called BCL11A in a new intellectual disability ... read more

HD Monkeys Display Full Spectrum of Symptoms Seen in Humans

July 21, 2016 — Transgenic Huntington's disease monkeys display a full spectrum of symptoms resembling the human disease, strengthening the case that they could be used to evaluate emerging treatments before ... read more

World First Discovery Gets to the Heart of Birth Defects

July 20, 2016 — For the first time, scientists believe they've discovered a cause of multiple types of birth defects triggered by environmental stresses. The breakthrough shows that cellular stress could be the ... read more

Quitting Smoking During Pregnancy: Beneficial for Both Mother and Child

July 19, 2016 — In 80 percent of cases, pregnant women who used nicotine patches or the drug Zyban successively quit smoking, a new study has shown. Even after stopping the use of these products, 60 percent of Zyban ... read more

July 19, 2016 — Although mitochondria, the tiny capsules that produce energy for the cell, are known to play some role in neurodevelopmental and psychiatric disorders, the contribution of mitochondrial dynamics has ... read more

Discovery Yields Answers for Family With Thoracic Aortic Aneurysm and Dissection

July 18, 2016 — Through genetic analysis of a family with a history of thoracic aortic aneurysm and dissection (TAAD), investigators have identified mutations in the LOX gene, a gene associated with the integrity of ... read more

Children Are Affected by Parental Substance Use

July 18, 2016 — Children whose caregivers misuse alcohol or use, produce or distribute drugs face an increased risk of medical and behavioral problems. According to a new clinical report, pediatricians hold the ... read more

New Genetic Cause of Coats Plus Syndrome

July 18, 2016 — A team of Israeli researchers has discovered that mutations in STN1, a gene that helps maintain the ends of chromosomes, cause the rare, inherited disorder Coats plus ... read more

Antibodies in Patients With Rare Disorder May Have Role Preventing Type 1 Diabetes

July 14, 2016 — People with a rare autoimmune disorder produce autoimmune antibodies that appear to be linked to a reduced occurrence of type 1 diabetes, new research has found. The study suggests these antibodies ... read more

July 14, 2016 — Researchers have mapped out the sets of biological and chemical signals necessary to quickly and efficiently direct human embryonic stem cells to become pure populations of any of 12 cell types, ... read more

July 13, 2016 — A gene associated with Alzheimer's disease and recovery after brain injury may show its effects on the brain and thinking skills as early as childhood, according to a new ... read more

July 13, 2016 — The majority of cases of autism spectrum disorder (ASD) are unknown. Now researchers have created a "mini-brain" model, derived from persons with a particular form of idiopathic ASD ... read more

Sound Waves May Hold Potential to Treat Twin Pregnancy Complications

July 13, 2016 — High energy sound waves could treat a potentially deadly complication that affects some twin pregnancies, says new ... read more

First Drug Target Identified for Children With Rare Type of Brain Tumor

July 13, 2016 — Primitive neuroectodermal tumors are the largest group of malignant brain tumors in children. They can arise from the brain's cerebellum or from tissue located throughout the central nervous ... read more

Umbilical Cord Patch Could Be Method for Fetal Spina Bifida Repair

July 12, 2016 — A patch made from cryopreserved human umbilical cord may be a novel method for treating spina bifida in utero, according to ... read more

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