A study in the New England Journal of Medicine reports the Undiagnosed Diseases Network has identified 31 new syndromes and found diagnoses for 132 patients within two years of its inception.
Cataract, a condition in which the eye’s natural lens get clouded, is the most common cause of vision loss in older people and can be corrected by routine surgery. But congenital cataract, which occurs in infants and children, is particularly serious since it can inhibit visual development leading to permanent vision loss or impairment, which cannot be entirely reversed with cataract surgery. A new study from Dr. Hugo Bellen's lab has now found compelling evidence that links dynamin-binding protein (DNMBP) to congenital bilateral cataract and severe vision loss.
Dr. Zhandong Liu's team finds long genes are not preferentially misregulated in Rett and MeCP2 duplication syndromes.
Zoghbi lab has found two neuronal lineages in the hindbrain that coordinate and relay changes in oxygen and carbondioxide levels to the rhythmogenic neurons in the central respiratory circuit to establish and maintain optimal breathing rhythms, which are especially critical for the survival of a newborn.
Xue lab develops a better optogenetic tool to study neurons.
The UDN team reports spontaneously arising mutations in a single copy of the IRF2BPL gene are associated with a previously undiagnosed neurological disorder in seven unrelated individuals.
A team of scientists led by Dr. Juan Botas, professor at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute have developed a way to sort through the thousands of genetic alterations that accumulate in human brains affected by neurological disease.
A new study from the laboratory of Dr. Marco Sardiello, assistant professor in Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, has found oral administration of trehalose, a simple sugar, can resolve the neurological symptoms associated with the deficiency of a lysosomal enzyme.
The researchers in the laboratory of Dr. Hugo Bellen, professor at Baylor College of Medicine and an investigator at the Howard Hughes Medical Institute and at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, have found ceramides, a family of lipid molecules found within cell membranes, play an important role in an early-onset form of Parkinson’s disease. The study was published in the journal Cell Metabolism.
A recent study published in Cell Reports has found a novel mechanism by which Tau protein aggregates might contribute to neurodegeneration.
An interdisciplinary team has found a link between TBX2, a member of the T-box family of transcription factors, to a novel disorder that mainly affects the cardiac, skeletal, immune and endocrine systems.
Ari-1 is linked to human aortic anueurysms.
The Bellen lab has generated large library of versatile CRIMIC fly stocks.
Dr. Marco Sardiello's lab develops a new web tool called Aminode.
Disrupting Ataxin1-capicua complex alleviates SCA1 symptoms
Changes in PUM1 levels cause two distinct neurological syndromes
NRI researchers identify OTUD7A as the gene responsible for 15q13.3 microdeletion syndrome, a complex neurological condition.
Researchers in the laboratory of Dr. Juan Botas, investigator at the Jan and Dan Duncan Neurological Research Institute and professor at Baylor College of Medicine, are among the team of NIH scientists and collaborators who have uncovered a potential new strategy to treat Huntington's disease.
A study from the Dr. Hugo's Bellen lab shows how alpha-ketoglutarate, produced by mitochondria, the energy generators of the cell, plays an unexpected role in the regulation of neurotransmission linking mitochondrial dysfunction and neuronal disorders.
In this study, Dr. Tiemo's team have found a novel way to reduce a particular type of medulloblastoma, the most common malignant brain tumors in children. This promising discovery could act as adjunct therapy to increase remission rates and cancer-free survival among the patients of sonic hegdehig-type medulloblastoma patients.