Tinatin Tkemaladze
A5079365578- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Neuroscience and Neuropharmacology Research
- Chromatin Remodeling and Cancer
- Cancer, Hypoxia, and Metabolism
- Pain Management and Placebo Effect
- RNA modifications and cancer
- Tumors and Oncological Cases
- Cutaneous Melanoma Detection and Management
- Cancer Genomics and Diagnostics
- AI in cancer detection
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Memory and Neural Mechanisms
- RNA regulation and disease
- Histone Deacetylase Inhibitors Research
- Immunodeficiency and Autoimmune Disorders
- Connective tissue disorders research
- Renal and related cancers
- Genomics and Chromatin Dynamics
- Hereditary Neurological Disorders
- Digestive system and related health
- Genetic Syndromes and Imprinting
- Acute Myeloid Leukemia Research
Tbilisi State Medical University
2008-2025
Central State Hospital
2023-2025
Syracuse University
2023
Azienda USL di Bologna
2023
David Tvildiani Medical University
2023
Integra (United States)
2023
Aga Khan University
2021
Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous these...
The most important factor that complicates the work of dysmorphologists is significant phenotypic variability human face. Next-Generation Phenotyping (NGP) tools assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted patients from populations different their training data. To end, we systematically analyzed impact genetic ancestry on facial dysmorphism. For purpose, established GestaltMatcher Database (GMDB) as a reference dataset for...
Meningomyelocele is one of the most severe forms neural tube defects (NTDs) and frequent structural birth defect central nervous system. We assembled Spina Bifida Sequencing Consortium to identify causes. Exome genome sequencing 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared general population. Furthermore, analysis separate deletion cohort suggested 12- 15-fold NTD meningomyelocele. The loss
Abstract To present our experience using a multiomic approach, which integrates genetic and biochemical testing as first-line diagnostic tool for patients with inherited metabolic disorders (IMDs). A cohort of 3720 from 62 countries was tested panel including 206 genes single nucleotide copy number variant (SNV/CNV) detection, followed by semi-automatic filtering reflex (25 assays). In 1389 (37%), diagnosis achieved. Within this cohort, the highest yield obtained Asia (57.5%, mainly...
Abstract KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context European collaborative study, we collected largest cohort KBGS patients (49). A combined array- based Comparative Genomic Hybridization next generation sequencing (NGS) approach investigated both genomic Copy...
Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients, which highlights the need accurate identification interpretation novel variants. In cohort 4577 molecularly families, numerous scenarios in variant can be challenging are encountered. We describe categories challenges that cover phenotype (e.g. allelic disorders), pedigree structure imprinting disorders masquerading as autosomal recessive...
Complex glycerol kinase deficiency (CGKD), also known as Xp21 contiguous gene deletion syndrome, is a rare X-linked recessive disorder resulting from partial of the Xp21.3 chromosomal region. CGKD encompasses several loci, including ( GK ), Duchenne muscular dystrophy DMD adrenal hypoplasia congenita NR0B1 and intellectual developmental IL1RAPL1 ). We present cases two male siblings diagnosed with CGKD. The elder sibling was initially suspected having congenital (CAH). Whole exome sequencing...
Background and Aims Janus kinase-3 (JAK3) deficiency, first described in 1995, is an autosomal recessive inborn error of immunity that mostly results variants severe combined immunodeficiency (SCID). The frequency estimated to account for 7-14% heritable SCID, with sporadic cases the Western world. Neither preferential “hot spots” nor founder effects have yet been documented. Hereby, we aim describe global experience JAK3-related diseases regarding clinical spectrum, genetic landscape,...
MSMO1 deficiency (OMIM #616834) is an ultrarare autosomal recessive disorder of distal cholesterol metabolism with only five cases reported to date. The caused by missense variants in the gene encoding methylsterol monooxygenase 1, leading accumulation methylsterols. Clinically, characterized growth and developmental delay, often association congenital cataracts, microcephaly, psoriasiform dermatitis immune dysfunction. Treatment oral topical supplements statins was improve biochemical,...
Chromosome 9p duplication, also known as a partial trisomy 9p, is rare chromosome abnormality due to duplication of the short arm 9. More than 200 cases are reported in literature. Major clinical findings include stature, developmental delay, intellectual disability, and characteristic facial dysmorphic features. The most common origin this syndrome malsegregation parental reciprocal translocation. Only about 25 de novo literature, rest being inherited from asymptomatic balanced carrier...
Germline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under umbrella hamartoma tumor syndromes. Due to wide array possible clinical presentations varying degrees symptom severity, many individuals might remain undiagnosed for an extended period. We describe case male child who received diagnosis at age 12. His features included macrocephaly, hypertrophy left arm, thyroid nodules, penile freckles,...
Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in COL4A3 , COL4A4 COL4A5 genes. The phenotypes can range from isolated hematuria with non-progressive or very slowly progressive course to disease extrarenal Timely diagnosis of facilitates the early effective implementation treatment, as well counseling. Here, we report c.765G > A, p.((=))...
Nager syndrome (MIM #154400) is a rare acrofacial dysostosis predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic present with significant clinical heterogeneity. Although autosomal recessive dominant modes of inheritance have been reported, most spontaneous. Heterozygous variants SF3B4 on chromosome 1q21 found approximately 60% patients. Here, we report first patient from Georgia diagnosed detailed description its manifestations diagnosis.