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TRM: Two Mutant Mice Strains for the Study of Miller–Dieker syndrome (MDS)

Miller–Dieker syndrome (MDS), or 17p13.3 deletion syndrome results in human neuronal migration disorders characterized by type 1 lissencephaly sequence (ILS), severe mental retardation and reduced life expectancy. The understanding of these syndromes is often incomplete and is the subject of active research. Researchers have demonstrated that the gene encoding 14-3-3ε (YWHAE), one of a family of ubiquitous phosphoserine/threonine–binding proteins, is always deleted in individuals with MDS. Mice deficient in Ywhae have defects in brain development and neuronal migration, similar to defects observed in mice heterozygous with respect to Pafah1b1.  Gene specific transcriptional activation or repression is regulated by a complex network of transcription factors designated the Myc/Max/Mad network. MNT (max binding protein) binds DNA and a heterodimer with MAX and represses transcription and acts as an antagonist of Myc-dependent transcriptional activation and cell growth. Described below are two mice strains that may be useful in studies of Miller-Dieker Lissencephaly Syndrome generated by the same researcher.

Augmentations to Lentiviral Vectors to Increase Expression

UCLA researchers in the Department of Microbiology, Immunology and Molecular Genetics have developed a novel method to produce short lentiviral vectors with tissue-specific expression, with a primary focus on lentiviral vectors for treating sickle cell disease and other disorders of hemoglobin.

Optimized Lentiviral Vector for Stem Cell Gene Therapy of Hemoglobinopathies

UCLA researchers in the Department of Microbiology, Immunology and Molecular Genetics have developed a novel method to produce short lentiviral vectors with tissue-specific expression, with a primary focus on lentiviral vectors for treating sickle cell disease and other disorders of hemoglobin.

Strategy for in vivo Depalmitoylation of Proteins and Therapeutic Applications Thereof

The neuronal ceroid lipofuscinoses (NCLs), commonly grouped together as Batten disease, are the most common neurodegenerative lysosomal storage diseases of the pediatric population. No cure for NCL has yet been realized. Current treatment regimens offer only symptomatic relief and do not target the underlying cause of the disease. Although the underlying pathophysiology that drives disease progression is unknown, several small molecules have been identified with diverse mechanisms of action that provide promise for the treatment of this devastating disease. On this point, several researchers have reported the use of potential drugs for NCL patient lymphoblasts and fibroblasts, along with neurons derived from animal models of NCL disease. Unfortunately, most of these studies were inconclusive or clinical trials or follow-up results were not available. High concentrations employed and toxicity of the small molecules are clear disadvantages to the use of some of the corresponding derivatives as potential drugs. To circumvent these effects, development of nontoxic alkyl cysteines would be useful for the non-enzymatic and chemo-selective depalmitoylation of S-palmitoyl proteins, which hold good promise as an effective treatment for neuronal ceroid lipofuscinoses.

Generation Of Minimal Enhancer Elements Using Massively Parallel Reporter Assays

UCLA researchers in the Department of Microbiology, Immunology and Molecular Genetics have developed a novel method to produce short lentiviral vectors with tissue-specific expression, with a primary focus on lentiviral vectors for treating sickle cell disease and other disorders of hemoglobin.

A Method to Prevent the Myelin Abnormalities Associated with Arginase Deficiency

UCLA researchers in the Department of Surgery have developed a gene therapy to prevent dysmyelination (and other CNS abnormalities) as a result of arginase deficiency.

Treatment for Restoring Ureagenesis in Carbamoyl Phosphate Synthetase 1 Deficiency

UCLA researchers in the Department of Surgery have developed a gene therapy to treat carbamoyl phosphate synthetase 1 deficiency.

Novel CRISPR Gene Therapy for Haploinsufficiency

This technology presents a way to treat human genetic disease caused by haploinsufficiency and reduced protein production. The method employs the use of adeno-associated viral (AAV) vectors for the in vivo delivery of a CRISPR-based gene expression activator (CRISPRa) that boosts transcription from the existing functional copy of the affected gene.

Expression-based Diagnosis of Autism Spectrum Disorder and Potential Prognosis of other Complex Diseases

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with prenatal and early postnatal biological onset. Genetic factors contribute to the predisposition and development of ASD with estimated heritability rates of 50-83%. Large-scale genetic studies have implicated several hundred risk (rASD) genes that appear to be associated with many different pathways, cell processes, and neurodevelopmental stages. This highly heterogeneous genetic landscape has raised challenges in elucidating the biological mechanisms involved in the disorder. While rigorous proof remains lacking, current evidence suggests that rASD genes fall into networks and biological processes that modulate one or more critical stages of prenatal and early postnatal brain development, including neuronal proliferation, migration, neurite growth, synapse formation and function. However, these insights are mostly gained from focused studies on single rASD genes or based on transcriptome data of non-ASD brains, leaving an incomplete picture of rASD-induced molecular changes at the individual level and relationships with early-age clinical heterogeneity.

Methods to Transport RNA into Mitochondria

Researchers at UCLA’s Jonsson Comprehensive Cancer Center, the Department of Chemistry and Biochemistry, and the Department of Pathology and Laboratory Medicine have uncovered a role for an essential cell protein, polynucleotide phosphorylase (PNPASE) in shuttling RNA into the mitochondria, the energy-producing “power plant” of the cell. This discovery sets the foundation for the development of long-term nucleic acid-based correction of mitochondrial-encoded defects through stem cells or other treatment vehicles.

Inhibition of the Aggregation of Transthyretin by Specific Binding of Peptides to Aggregation-Driving Segments

UCLA researchers from the Department of Chemistry and Biochemistry have developed a novel process to inhibit amyloid aggregation of Transthyretin, which is associated with three debilitating disorders including senile systemic amyloidosis (SSA), Familial Amyloidotic Polyneuropathies (FAP), and Familial Amyloidotic Cardiomyopathies (FAC).

Inhibition Of Lipofuscin Aggregation By Molecular Tweezers

UCLA researchers in the Departments of Neurology and Molecular Therapy & Medical Genetics have developed a novel approach toward broad inhibition of lipofuscin aggregation.

Method for Assessing Risk of Genetic Defects in Children by Identifying De Novo Mutations in Male Sperm

In general, the risk of having a child with autism spectrum disorder (ASD) is about 1 in 68, or 1.5%. But the risk goes up for families who already have a child with ASD. If a family has one child with ASD, the chance of the next child having ASD is about 20%. If the next child is a boy, the risk is 26%, whereas if it’s a girl the risk is 10%. About 47% of families had more than one child with autism. Currently if a child has a birth defect or autism, the emerging trend is to perform whole exome sequencing to identify genetic mutations. These mutations overwhelmingly come from the father, because sperm cells but not egg cells continue to divide through the life of adults. Once the mutation is identified, the diagnosis can be made in the child, but the parents are left wondering if this genetic event could recur in future children. Currently there is no genetic assessment of sperm available commercially, and no publications on the application of using sperm as a way to assess risk of childhood disease, nor is there a risk assessment available for couples that have had a child with a genetic disease due to de novo genetic mutation.

Polyrotaxane Nanoparticles for Delivery of Large Plasmid DNA in Duchenne Muscular Dystrophy

UCLA researchers have designed, synthesized, and validated a polyrotaxane nanocarrier for targeted delivery of large plasmids for gene therapy applications for treatment of Duchenne muscular dystrophy and cancer.

AGPAT5 as a Molecular Mediator of Insulin Resistance

UCLA researchers in the Departments of Medicine and Cardiology have identified a novel gene and pathway in the regulation of insulin sensitivity and discovered an inhibitor of this gene useful for treating AGPAT5-related diseases.

Non-Invasive Preimplantation Genetic Screening using Free DNA from Spent Embryo Media

A UCLA physician has developed a novel method to screen for embryonic genetic competency during the in vitro fertilization process by using the free DNA released from a candidate embryo.

Identification of a Factor that Promotes Human Hematopoietic Stem Cell Self-Renewal

The Mikkola group at UCLA has discovered a novel regulator of hematopoietic stem cell self-renewal. The overexpression of this regulator increases the yield of ex vivo stem cell expansion and could thereby improve the efficiency of stem cell therapies. 

Methods and Compounds for Treating Mitochondrial Diseases

Researchers at the University of California, Davis have developed a treatment for mitochondrial disease through a repurposing approach whereby a library of FDA-approved drugs was screened for previously unknown therapeutic effectiveness in these diseases.

Transposon Vector for Vertebrate & Invertebrate Genetic Manipulation

Background: Therapeutic delivery of genes is a rapidly evolving technique used to treat or prevent a disease at the root of the problem. The global transgenic market is currently $24B, growing at an annual projected rate of 10%. Currently, a variation of this technique is widely used on animals and crops for production of desirable proteins, but this is a heavily infiltrated market. Thus, entering the gene therapy segment is more promising and would enhance the growth of this industry.  Brief Description: UCR Researchers have identified a novel transposon from Aedes aegypti mosquitoes. This mobile DNA sequence can insert itself into various functional genes to either cause or reverse mutations. They have successfully developed a transposon vector system that can be used in both unicellular & multicellular organisms, which can offer notable insight to improve current transgenic technologies as well as methods of gene therapy.

New Therapeutic Leads for Cachexia and Anorexia

The agouti-related protein (AgRP) produced in the brain is a potent appetite stimulant. AgRP binds with high affinity to melanocortin (MC) receptors and plays a central role in energy balance by stimulating feeding and decreasing energy expenditure. This modified AgRP invention provides unexpectedly superior results when used as an appetite stimulant. AgRP animal models have successfully demonstrated enhanced feeding for an extended period, longer acting than any other known hormone or drug used to treat diseases such as cachexia or anorexia.

Peripheral Biomarkers For The Assessment Of Autism

Researchers in the Department of Neurology and the Autism Center in the Semel Institute at UCLA have identified genetic factors which are associated with autism.

Brown Adipose Tissue Cell Lines Derived from Protein-Tyrosine Phosphatase 1B Knockout Mice Reconstituted with Sumoylation Mutant PTP1B K4R

Platform for testing the effects of human PTP1B inhibition on insulin signaling, adipose differentiation and glucose uptake.

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