Alport Syndrome: Basic Science and Clinical Practice
October 22, 2020 | 10:00 AM - 12:00 PM
Click an icon below to load this item into your calendar. Please note that times are exported as Coordinated Universal Time (UTC). Time zone help.
Basic/Clinical Science Session
Alport Syndrome: Basic Science and Clinical Practice
October 22, 2020 | 10:00 AM - 12:00 PM
Location: On-Demand
Session Description
There have been a variety of recent developments regarding Alport syndrome, both basic and clinical. This session provides updated insights into the basic science of Alport syndrome, its genetic and disease classification, and clinical natural history studies and trials.
Learning Objective(s)
- Describe the genetics and classification of diseases of the collagen IV alpha-345 network
- Discuss recent insights into Alport syndrome pathogenesis
- Summarize the findings of recent natural history studies and clinical trials involving patients with Alport syndrome
Learning Pathway(s)
- Genetic Diseases of the Kidneys
- Glomerular Diseases
Moderators
- Lesley Ann Inker, MD, MS
- Clifford E. Kashtan, MD, FASN
Presentations
- Genetics of Alport Syndrome: Primary Mutations and Modifiers
10:00 AM - 10:30 AM
Alessandra Renieri, MD, PhD
Alessandra Renieri, MD, PhD
Alessandra Renieri graduated in Medicine at the University of Siena and obtained a PhD in Human Genetics at the University of Torino. Subsequently she received a specialist degree in Medical Genetics at the University of Florence and she then went back to Siena where she worked first as Medical Assistant and then as researcher. In 2000 she was appointed Associate Professor and from 2007 she is Full Professor of Medical Genetics at the School of Medicine of the University of Siena. From July 1st, 2019 she is member of the Committee for Advanced Therapies (CAT) at the European Medicines Agency. She is the director of the Medical Genetics Unit of the General Hospital of Siena. Since 2001 she has coordinated, as director of the Medical Genetics Unit, more than 15,000 genetic counselling. Her main research interest has always been the study of the genetic basis of of rare diseases, with a special focus on Rett syndrome, and other conditions with intellectual disabilities (ID), Alport syndrome, retinoblastoma and other rare cancers. Her laboratory was among the first in Italy to introduce the technology of array-CGH and of Next Generation Sequencing (NGS) for clinical diagnosis. Her laboratory is a referral center for Rett in Italy and, since 1998, she directs the Genetic Biobank of Siena (GBS, http://www.biobank.unisi.it), one of the few in Italy certified SIGU-CERT and ISO9001, and funded by Telethon since 2002. GBS is the Italian Partner of BBMRI (Biobanking and Biomolecular Resources Research Infrastructure), member of EuroBioBank and RD-Connect. Since 2009, she coordinates the international Rett database network (http://www.rettdatabasenetwork.org). She also coordinates the Italian Registry of Alport disease, an Italian network for Alport disease, which aims to fund and support actions in favour of the management and treatment of ATS patients. In order to create a human cellular model for the study of the pathogenic mechanisms of Rett syndrome directly in human affected neurons, she set up the technique of genetic reprogramming in her laboratory (iPS).
She has been involved in cancer genetics for many years, including retinoblastoma, breast, colon and lung cancer. Her laboratory is among the first in Italy to introduce the use of NGS for “liquid biopsy” as an innovative diagnostic and prognostic technique in cancer for early detection and monitoring cancer growth and resistance to treatment for “personalized medicine”. Prof. Renieri is HCP (Health Care Provider) representative/sub-representative for Azienda Ospedaliera Universitaria Senese (AOUS) of 5 European Reference Networks (ERNs): EuroBloodNet (on rare haematological diseases); ERKNET (on rare kidney diseases); ERN ITHACA (on ID and congenital anomalies); PaedCan-ERN (on paediatric cancers) and EURACAN (for rare adult solid cancers).Since 2017 her reasearch interest is focused on gene editing using CRISPR systems and its translation to clinical practice. Currently, she is running four gene editing projects. Three are using Crispr/Cas9 and AAV system and are related to Rett syndrome (FOXG1 variant), Parkinson (LRRK2 and GBA) and Alport syndrome (COL4A5). One is using Crispr/Cpf1 and lentiviral vector and it is related to Chronic Lymphocytic Leukemia and other TP53 mutared cancers. More recently, in Siena she was sorting out a sort of “factory” for producing plasmid & vectors for gene editing in vitro & animal models, preliminary for clinical trial for a number of diseases including Rett syndrome, Parkinson disease, Alport syndrome and Pompe diseases, among others.
Genetics of Alport Syndrome: Primary Mutations and Modifiers
October 22, 2020 | 10:00 AM - 10:30 AM
Click an icon below to load this item into your calendar. Please note that times are exported as Coordinated Universal Time (UTC). Time zone help.
- Alport Syndrome: Review of Recent Insights from Basic Science Studies
10:30 AM - 11:00 AM
Jeffrey H. Miner, PhD, FASN
Jeffrey H. Miner, PhD, FASN
Alport Syndrome: Review of Recent Insights from Basic Science Studies
October 22, 2020 | 10:30 AM - 11:00 AM
Click an icon below to load this item into your calendar. Please note that times are exported as Coordinated Universal Time (UTC). Time zone help.
- Alport Syndrome: Current and Investigational Treatments
11:00 AM - 11:30 AM
Michelle N. Rheault, MD
Michelle N. Rheault, MD
Dr. Michelle Rheault is the Director of the Division of Pediatric Nephrology and Associate Professor of Pediatrics at the University of Minnesota Masonic Children’s Hospital in Minneapolis, MN. She completed her medical school training, Pediatric residency, and Pediatric Nephrology fellowship at the University of Minnesota Medical School. Her interest in Alport syndrome started during her fellowship training when she helped to characterize the first mouse model of X-linked Alport syndrome. From there, she turned her attention to clinical research and is currently co-director of the Alport Syndrome Treatment and Outcomes Registry (ASTOR). She has a special interest in women with Alport syndrome. Dr. Rheault is on the steering committee for the Pediatric Nephrology Research Consortium and a member of the American Board of Pediatrics Subboard of Pediatric Nephrology. Follow her on Twitter @rheault_m
Alport Syndrome: Current and Investigational Treatments
October 22, 2020 | 11:00 AM - 11:30 AM
Click an icon below to load this item into your calendar. Please note that times are exported as Coordinated Universal Time (UTC). Time zone help.
- Exon Skipping Therapy in Alport Syndrome
11:30 AM - 12:00 PM
Kandai Nozu, MD, PhD
Exon Skipping Therapy in Alport Syndrome
October 22, 2020 | 11:30 AM - 12:00 PM
Click an icon below to load this item into your calendar. Please note that times are exported as Coordinated Universal Time (UTC). Time zone help.
