Study IDs important role for specific gene in 16p11.2 deletion autism
(Picower Institute at MIT) New findings in mice suggest that the lack of a copy of the gene MVP may contribute to the symptoms of 16p11.2 deletion syndrome because it is needed for brain circuits to incorporate changes driven by experience. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - March 20, 2018 Category: International Medicine & Public Health Source Type: news

Young adult outcomes for children with 22q11 deletion syndrome and comorbid ADHD - Taylor LE, Kates WR, Fremont W, Antshel KM.
BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is a common microdeletion syndrome associated with a variety of negative health, cognitive, emotional, and behavioral outcomes. 22q11DS is comorbid with many psychiatric disorders including attention-deficit/... (Source: SafetyLit)
Source: SafetyLit - February 5, 2018 Category: International Medicine & Public Health Tags: Age: Young Adults Source Type: news

Researchers identify gene largely accounting for 15q13.3 microdeletion syndrome
(Baylor College of Medicine) Researchers have identified in a mouse model OTUD7A as the gene within the deleted region that accounts for many characteristics of 15q13.3 microdeletion syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 2, 2018 Category: International Medicine & Public Health Source Type: news

Little Orla ’s greatest gift – a family Christmas at home 
Two-year-old Orla Healy, from Luton, was diagnosed with DiGeorge syndrome – where a small piece of one chromosome is missing – while her mother was pregnant with her. (Source: the Mail online | Health)
Source: the Mail online | Health - December 31, 2017 Category: Consumer Health News Source Type: news

Bidirectional regulation of aggression in mice by hippocampal alpha-7 nicotinic acetylcholine receptors - Lewis AS, Pittenger ST, Mineur YS, Stout D, Smith PH, Picciotto MR.
Humans with 15q13.3 microdeletion syndrome (15q13.3DS) are typically hemizygous for CHRNA7, the gene coding for the α7 nicotinic acetylcholine receptor (nAChR), and manifest a variable neuropsychiatric phenotype that frequently includes persistent aggress... (Source: SafetyLit)
Source: SafetyLit - November 13, 2017 Category: International Medicine & Public Health Tags: Alcohol and Other Drugs Source Type: news

DiGeorge syndrome
(Source: MayoClinic.com Full Feed)
Source: MayoClinic.com Full Feed - June 7, 2017 Category: Consumer Health News Source Type: news

Boy left unable to SMILE from rare condition cured by MILK
Sonny Little, 4, from Trowbridge, Wiltshire, has a rare chromosome deletion syndrome known as 2Q24.3, which caused severe seizures and left him unable to crawl, laugh, eat or smile. (Source: the Mail online | Health)
Source: the Mail online | Health - June 4, 2017 Category: Consumer Health News Source Type: news

CRKL in 22q11.2; a key gene that contributes to common birth defects
(Baylor College of Medicine) The research findings imply that patients with genitourinary birth defects due to 22q11.2 changes in gene dosage should also be evaluated for other potential birth defects seen in patients with DiGeorge syndrome that would affect the patient's future health. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 25, 2017 Category: International Medicine & Public Health Source Type: news

UCLA researchers find brain differences between people with genetic risk for schizophrenia, autism
A UCLA study characterizes, for the first time, brain differences between people with a specific genetic risk for schizophrenia and those at risk for autism, and the findings could help explain the biological underpinnings of these neuropsychiatric disorders.Theresearch, published May 23 in the Journal of Neuroscience, sheds light on how an excess, or absence, of genetic material on a particular chromosome affects neural development.“Notably, the opposing anatomical patterns we observed were most prominent in brain regions important for social functioning,” said Carrie Bearden, lead author of the study and a professor ...
Source: UCLA Newsroom: Health Sciences - May 25, 2017 Category: Universities & Medical Training Source Type: news

Facial recognition software helps diagnose rare genetic disease
Researchers have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 24, 2017 Category: Science Source Type: news

Facial Recognition Software Helps Diagnose Rare Genetic Disease
Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. The disease, 22q11.2 deletion syndrome, also known as DiGeorge syndrome and velocardiofacial syndrome, affects from 1 in 3,000 to 1 in 6,000 children. (Source: eHealth News EU)
Source: eHealth News EU - March 24, 2017 Category: Information Technology Tags: Featured Research Research and Development Source Type: news

Schizophrenia-associated gene research funded by $3.1 million NIH grant
(Emory Health Sciences) A research team at Emory University is embarking on a multipronged study of 3q29 deletion syndrome, a genetic mutation associated with a 40-fold increased risk for schizophrenia and a range of other neuropsychiatric conditions including mild to moderate intellectual disability, autism and anxiety. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 24, 2017 Category: Global & Universal Source Type: news

Facial recognition software help diagnose rare genetic disease
(NIH/National Human Genome Research Institute) Researchers with NHGRI and their collaborators have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. The study was published March 23, 2017, in the American Journal of Medical Genetics. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 23, 2017 Category: Global & Universal Source Type: news

Aevi Genomic initiates Phase I/II trial of AEVI-001 to treat 22q DS
US-based Aevi Genomic Medicine has initiated its Phase I/II clinical trial with the enrolment and dosing of its first patient with AEVI-001 (NFC-1) to treat 22q11.2 deletion syndrome (22q DS) in children. (Source: Drug Development Technology)
Source: Drug Development Technology - February 2, 2017 Category: Pharmaceuticals Source Type: news