Breaking News
February 22, 2019 - Lower Self-Perception Observed in Children With Amblyopia
February 22, 2019 - Up to 15 percent of children have sleep apnea, yet 90 percent go undiagnosed
February 22, 2019 - Rare pulmonary defect prompts parents’ nationwide search for answers | News Center
February 22, 2019 - Lesbian and bisexual women at greater risk of being overweight, study finds
February 22, 2019 - UQ research may explain why vitamin D is essential for brain health
February 22, 2019 - Heart Attacks Rising Among Younger Women
February 22, 2019 - How your smartphone is affecting your relationship
February 22, 2019 - Orthopaedic surgeon receives prestigious award, $10 million grant | News Center
February 22, 2019 - New sepsis test could save thousands of lives
February 22, 2019 - Cervical cancer could be eradicated by 2100
February 21, 2019 - Sustained smoking cessation can lower risk of seropositive RA
February 21, 2019 - Thousands with chronic UTIs are not receiving the treatment they need
February 21, 2019 - Are teens getting high on social media? The surprising study seeking the pot-Instagram link
February 21, 2019 - Stanford expands biobank services | News Center
February 21, 2019 - Scientists identify link between drinking contexts and early onset intoxication among adolescents
February 21, 2019 - Strong social support may reduce cardiovascular disease risk in postmenopausal women
February 21, 2019 - Rapid expansion of interventions could prevent up to 13 million cases of cervical cancer within 50 years
February 21, 2019 - Motif Bio Receives Complete Response Letter From The FDA
February 21, 2019 - Researchers map previously unknown disease in children
February 21, 2019 - A skeptical look at popular diets: Going gluten-free
February 21, 2019 - Podcast: KHN’s ‘What The Health?’ How Safe Are Your Supplements?
February 21, 2019 - Factors associated with increased risk of developing surgical site infections
February 21, 2019 - Anticipatory signals in eye movements can help measure attentive capacity, learning with greater precision
February 21, 2019 - Study explores daily exposure to indoor air pollutants
February 21, 2019 - Evening exercise does not negatively affect sleep, may also reduce hunger
February 21, 2019 - Artificial intelligence technique can be used to identify alcohol misuse in trauma setting
February 21, 2019 - Overweight, obesity in adolescence associated with increased risk of renal cancer later in life
February 21, 2019 - BGU develops new AI platform for monitoring and predicting ALS progression
February 21, 2019 - Researchers discover a new promising target to improve HIV vaccines
February 21, 2019 - Brief Anesthesia in Infancy Does Not Mar Neurodevelopment
February 21, 2019 - Gaming system helps with autism diagnosis
February 21, 2019 - Heart Disease: Six Things Women Should Know
February 21, 2019 - More States Say Doctors Must Offer Overdose Reversal Drug Along With Opioids
February 21, 2019 - Researchers explore case studies focused on industries that kill more people than employed
February 21, 2019 - Only half of GP practice buildings are fit for purpose
February 21, 2019 - Intense exercise, fasting and hormones can enhance waste-protein removal, study shows
February 21, 2019 - Scientists can monitor brain activity to predict epileptic seizures few minutes in advance
February 21, 2019 - Study quantifies hepatic and intestinal mRNA expression of Ugt isoforms in rats
February 21, 2019 - ‘Apple-Shaped’ Body? ‘Pear-Shaped’? Your Genes May Tell
February 21, 2019 - Can we repair the brain? The promise of stem cell technologies for treating Parkinson’s disease
February 21, 2019 - Trump Plan To Beat HIV Hits Rough Road In Rural America
February 21, 2019 - PENTAX Medical introduces new electrosurgical and argon plasma coagulation platforms
February 21, 2019 - Trump plan to beat HIV hits rough road in rural America
February 21, 2019 - Eating blueberries every day could help decrease blood pressure
February 21, 2019 - ‘No Second Chances’ report calls for new measures to combat cardiovascular disease in Australia
February 21, 2019 - Mayo clinic researchers discuss local case studies of leprosy
February 21, 2019 - Scientists demonstrate key role of salt in allergic immune reactions
February 21, 2019 - Experts propose revising the criteria for diagnosis of Parkinson’s disease
February 21, 2019 - The med student and the machine
February 21, 2019 - Hey, Hey! Ho, Ho! Is Striking For School Nurses The Way To Go?
February 21, 2019 - Latest research encourages children to move out and learn through physical activity
February 21, 2019 - Proper oral hygiene and regular visits to dentist can promote heart health
February 21, 2019 - New, versatile technique for remote control of transplanted cells in Parkinson’s
February 21, 2019 - Why melanoma tumors in the brain may be worse?
February 21, 2019 - New project aims to improve lung disease care in Appalachia
February 21, 2019 - Drug increases melanin production in some people with albinism
February 21, 2019 - Over 1 in 3 adults miss the mark on protein, finds study
February 21, 2019 - CymaBay Therapeutics Announces Seladelpar Granted Breakthrough Therapy Designation by the FDA for the Treatment of Primary Biliary Cholangitis
February 21, 2019 - A correlation between obesity and income has only developed in the past 30 years
February 21, 2019 - Baby, then work: An effort to help resident-parents in emergency medicine
February 21, 2019 - Heavy cigarette smoking could damage vision, say researchers
February 21, 2019 - Some drug combinations may be more effective than others for schizophrenic patients
February 21, 2019 - Combination of common antibiotics can eliminate multi-drug resistant E. coli
February 21, 2019 - Number of calls to U.S. Poison Control regarding kratom exposure increased
February 21, 2019 - New computational tool searches for factors that cause specific diseases
February 21, 2019 - New method to assess effectiveness of psychotherapies for social anxiety disorder
February 21, 2019 - New technology measures hormones that influence reproductive health efficiently
February 21, 2019 - Bat influenza viruses could potentially attack the cells of humans and livestock
February 21, 2019 - Immunotherapeutic antibody therapy to kill cancer has now progressed to patient testing
February 21, 2019 - Johns Hopkins scientists find new compound that may prevent reperfusion injury
February 21, 2019 - Researchers develop new way to deliver treatment for cartilage regeneration
February 21, 2019 - Study sheds new light on left ventricular dysfunction in ischemic heart disease
February 21, 2019 - New technique could expedite cancer diagnosis, lead to better patient outcomes
February 21, 2019 - New map of infant brain may aid early diagnosis of autism
February 21, 2019 - Human consciousness depends on the brain’s ability to maintain dynamics of neural activity
February 21, 2019 - Harmony Biosciences Announces File Acceptance Of Its New Drug Application For Pitolisant
February 21, 2019 - Medications could fill treatment gap for adolescents with obesity
February 21, 2019 - New antibiotics are desperately needed: Machine learning could help | News Center
February 21, 2019 - Researchers develop new computer game for dementia carers
February 21, 2019 - University of Dundee partners with Takeda to develop new treatments for tau pathology
INSiGHT identifies unique retinal regulatory genes

INSiGHT identifies unique retinal regulatory genes

image_pdfDownload PDFimage_print
Dr. Melanie Samuel Credit: Baylor College of Medicine

Vision begins in the retina, a light-sensing neural network in the eye that is critical for our ability observe the world around us. Researches at Baylor College of Medicine, Texas Children’s Hospital and the Hospital for Sick Children have developed a new platform that enables them to uncover new regulators of retina neurons. This platform, named INSiGHT, was used to examine more than 100 genes, and 16 key retinal regulatory genes were identified.

Of these genes, 15 have not been previously identified as retinal regulators and nine have been associated with human diseases. The findings, which are published in the journal Cell Reports, contribute to a more complete picture of the genetic factors involved in retinal function in health and disease.

“Unless we can understand the molecular pathways that control neural fate, identity and connectivity, it becomes difficult to prevent or treat visual impairments, which globally affect 253 million people,” said corresponding author Dr. Melanie Samuel, assistant professor of neuroscience and in the Huffington Center on Aging at Baylor College of Medicine.

Motivated by the larger goal of better understanding the molecular control of the nervous system, Samuel and her colleagues focused on the retina.

“We study the retina for many reasons. First, people are visually oriented. In fact, a large part of our brain is dedicated to visual processing,” said Samuel, who also is part of Baylor’s Dan L Duncan Comprehensive Cancer Center. “Second, the retina is a simpler part of the nervous system relative to the brain, making it more tractable to study. In addition, we know a great deal about the retina, including the characteristics of its many neuron types and their basic connectivity. Finally, the retina can provide a window into the brain since molecules and principles that govern one system often also affect the other. “

INSiGHT

In this study, Samuel and her colleagues took an unbiased approach to screen for new genes involved in the normal development of the retina. They partnered with the Knockout Mouse Project at Baylor College of Medicine led by Dr. Arthur Beaudet, professor of molecular and human genetics, and Dr. Mary Dickinson, professor of molecular physiology and biophysics, who are co-authors of the study.

“The project, which is supported by a National Institutes of Health multimillion dollar grant and works in collaboration with the Mary Lyon Centre in Harwell in the U.K., generates mouse strains each lacking a specific gene that has been knocked out or deleted. We also establish the primary characteristics of the knocked out mice as a way to understand how genes work and what functions they are responsible for,” said Dickinson, who also holds the Kyle and Josephine Morrow Endowed Chair at Baylor.

In her lab, Samuel and her colleagues took the work of the Knockout Mouse Project a step further by looking at the role the deleted genes played specifically in the retina. For this, the researchers developed the INSiGHT platform, which stands for the Identification of Neural and Synaptic integrity Genes by High Throughput screening. The system analyzes the expression of the candidate gene and the effect of its deletion on vascular patterning, cellular organization and synaptic arrangement in tissue samples.

The researchers received tissue samples from more than 100 different lines of knockout mice representing about 450 different animals and applied INSiGHT to determine which of those lines may be affected in several features of retina organization. They found 16 unique retinal regulatory genes. Fifteen of them had not been implicated before in aspects of neural development, wiring and vascular patterns that nurture the retina. Importantly, all of these genes have equivalent human genes and nine of them have been previously implicated in human neural disease.

“Of the 16 genes we uncovered, a few caught our attention,” Samuel said. “For instance, animals lacking the gene Slc44a1 show quite dramatic changes in the vasculature patterning in the retina. We are interested in studying this gene further because proper development and maintenance of retinal vascular networks are critical for normal visual function, both in mice and people.”

“This study is particularly exciting because in addition to helping understand the mechanisms underlying eye disease, it will likely provide insights into other neurological or cardiovascular disorders,” Dickinson said. “The eye is really like a little brain but with a built-in window to directly observe the biology. By combining imaging with large scale genetics and cell biological methods, we are beginning to understand gene roles that have not previously been described.”

Now that Samuel and her colleagues have INSiGHT worked out, they plan to expand their screen to look for more genes as well as determine how the genes they have already uncovered function in the retina and the brain.

“Our objective is to contribute to a key goal in the field, which is to map the compendium of genes that regulate the nervous system,” Samuel said.


Explore further:
Researchers reverse congenital blindness in mice

More information:
Cell Reports (2018). DOI: 10.1016/j.celrep.2018.07.090

Journal reference:
Cell Reports

Provided by:
Baylor College of Medicine

Tagged with:

About author

Related Articles