Genetics and Epigenetics (Including Common and Rare Genetic Diseases) 1

7 Feb 2025 5:30 p.m. 6:30 p.m.

Shubharthi Kar Moderator

Time	Session

12 a.m. 12 a.m.	GENETIC VARIANTS ASSOCIATED WITH CHRONIC KIDNEY DISEASE (CKD) IN AN INDIAN POPULATION WCN25-AB-2509, Poster Board= FRI-321	GENETIC ASSOCIATION IN PATIENTS WITH CHRONIC KIDNEY DISEASE OF UNDETERMINED ETIOLOGY: AN OBSERVATIONAL STUDY WCN25-AB-965, Poster Board= FRI-322	CLINICAL CHARACTERISTICS, GENETIC PROFILE AND OUTCOMES OF CHILDREN WITH NON-AZOTEMIC REFRACTORY RICKETS: A COHORT STUDY WCN25-AB-2578, Poster Board= FRI-323	FANCONI RENOTUBULAR SYNDROME TYPE 5 WITHOUT EXTRARENAL COMPLICATION IN A CHILD FROM RUSSIA WCN25-AB-911, Poster Board= FRI-324	CLINICAL AND GENETIC CHARACTERISTICS OF DISTAL RENAL TUBULAR ACIDOSIS IN CHILDREN WCN25-AB-909, Poster Board= FRI-325	CLINICAL AND GENETIC CHARACTERISTICS CHILDREN WITH PROTEINURIA ASSOCIATED WITH CUBN VARIANTS WCN25-AB-901, Poster Board= FRI-326	X-LINKED ALPORT SYNDROME IN GIRLS: SINGLE CENTER STUDY WCN25-AB-982, Poster Board= FRI-327	RENAL GLYCOSURIA DUE TO SLC5A2 MUTATION IN A CHILD PRESENTING WITH RECURRENT URINARY TRACT INFECTIONS AND FAILURE TO THRIVE WCN25-AB-1066, Poster Board= FRI-328	THE GENETIC LANDSCAPE OF ALPORT SYNDROME IN INDIAN PATIENTS WITH PHENOTYPIC CORRELATION WCN25-AB-2999, Poster Board= FRI-329	AN UNUSUAL PRESENTATION OF ALPORT’S SYNDROME: A CASE REPORT WCN25-AB-1218, Poster Board= FRI-330	PERSPECTIVES ON GENETIC TESTING FROM NEPHROLOGISTS IN INDIA WCN25-AB-1442, Poster Board= FRI-331	FABRY DISEASE NEPHROPATHY: BIOMARKERS IN PATIENTS ON ENZYME REPLACEMENT THERAPY WCN25-AB-608, Poster Board= FRI-332	DEEP PHENOTYPING OF A FAMILY WITH NPHP1 WHOLE GENE DELETION USING HUMAN URINARY DERIVED RENAL EPITHELIAL CELLS WCN25-AB-2377, Poster Board= FRI-333	SMALL MOLECULE DRUG TREATMENTS FOR INHERITED KIDNEY DISEASE: NEPHRONOPHTHISIS WCN25-AB-1253, Poster Board= FRI-334	KMT2D, A KABUKI SYNDROME DISEASE GENE AND EPIGENETIC REGULATOR, FUNCTIONS WITHIN NEPHROGENIC CELLS IN A CELL AUTONOMOUS MANNER TO CONTROL HUMAN AND MOUSE NEPHROGENESIS WCN25-AB-226, Poster Board= FRI-335	DIAGNOSTIC UTILITY AND CLINICAL IMPACT OF GENOMIC TESTING NI ADOLESCENT AND ADULT KIDNEY DISEASE PATIENTS WITH SUSPECTED MONOGENIC ETIOLOGY – A PRAGMATIC PROSPECTIVE OBSERVATIONAL COHORT STUDY WCN25-AB-4606, Poster Board= FRI-336	LIPOPROTEIN GLOMERULOPATHY WITH NOVEL GENETIC VARIANT- CASE REPORT WCN25-AB-2287, Poster Board= FRI-337	A STUDY OF CLINICAL MANIFESTATIONS, IMAGING FINDINGS, AND LABORATORY ABNORMALITIES IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE – A SINGLE CENTRE STUDY WCN25-AB-2814, Poster Board= FRI-338