Like finding a needle in a haystack, identifying genes that are involved in particular diseases can be an arduous and time consuming process. Looking to improve this process, a team led by researchers at Baylor College of Medicine has developed a new bioinformatics tool that analyzes CRISPR pooled screen data and identifies candidates for potentially relevant genes with greater sensitivity and accuracy than other existing methods. The new analytical web-based tool also is quicker and more user friendly as it does not require bioinformatics training to use it.
Some neuropsychiatric conditions may boil down to how well brain cells communicate with each other. This can be affected by a number of factors, including having too much or too little of proteins that function at the synapse – the point of communication between two brain cells. SHANK3 is one of these proteins. In their labs, Dr. Huda Zoghbi, Dr. Jimmy L. Holder Jr. and their colleagues have been extensively studying SHANK3, and they and other labs have discovered what is good, bad and hopeful about this protein.
A study from Dr. Hugo Bellen's lab shows how ubiquilin proteins regulate lysosomal function, which suggests potential therapies for amyolateral sclerosis and frontotemporal dementia.
A study from Dr. Marco Sardiello's lab finds development of tuberous sclerosis involves a second mTORC1-independent mechanism.
A collaborative study from the Bellen lab provides new insights into how dengue and Zika viruses cause disease reveal shared and virus-specific mechanisms.
A team of researchers at Baylor College of Medicine, the Texas Heart Institute and Texas Children’s Hospital has developed a powerful new approach to understand the formation of new neurons in the mammalian adult brain.
In a study published in Nature Neuroscience, a co-author, Dr. Jimmy L. Holder Jr., neurologist and director of the new SYNGAP1 Center of Excellence at Texas Children’s Hospital, investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s and assistant professor at Baylor College of Medicine, analyzed retrospective clinical data of SYNGAP1 patients from a registry maintained by Bridge the Gap – SYNGAP1 Education and Research Foundation.
A recent study from Dr. Marco Sardiello's lab shows defective lysosomal biogenesis as the underlying cause of Neuronal Ceroid Lipofuscinoses 8 (NCL8).
Researchers in Sardiello lab find Src regulates mTORC1, both of which are known to be hyperacive in cancer. This study offers the possibility to develop novel approaches to control cancer growth.
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.