Renal Genetics Education, brought to you by Natera
Renal Genetics Education, brought to you by Natera
  • Видео 71
  • Просмотров 7 901
Genomic Testing Approach: Gene Panel Section | Part 1 - Pediatric Gene Overview
Dr. Guay-Woodford provides an introduction into the genomic landscape of diseases, describing the number of genes that have been identified as disease causing for pediatric renal disease. Stay tuned for this 6-part series.
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Просмотров: 75

Видео

Overview of a Seminal Paper in Renal Genetics | Chronic Kidney Disease: New Genetic Insights
Просмотров 1092 года назад
Dr. Gharavi provides a concise review of the cohort and diagnostic outcomes of his study of adults with CKD titled "Diagnostic Utility of Exome Sequencing for Kidney Disease", published in the New England Journal of Medicine in 2019. He concludes with two patient stories that highlight the role that genetic testing played in their diagnosis and clinical management. Have any questions? You can r...
What support exists? | After the Diagnosis: Approach to rare disorders | Part 6 | Anthony Bleyer
Просмотров 482 года назад
When your patient has a genetic mutation causing their CKD, what are the important things to tell them? Dr. Anthony Bleyer is a professor of Internal Medicine and Nephrology at Wake Forest School of Medicine, and leads the rare inherited disease team. In Part 6 of this series, Dr. Bleyer discusses how patients can create and provide support to each other, and within the field. In the field of r...
What to tell patients? | After the Diagnosis: Approach to rare disorders | Part 5 | Anthony Bleyer
Просмотров 362 года назад
When your patient has a genetic mutation causing their CKD, what are the important things to tell them? Dr. Anthony Bleyer is a professor of Internal Medicine and Nephrology at Wake Forest School of Medicine, and leads the rare inherited disease team. In Part 5 of this series, Dr. Bleyer discusses details to consider when talking about a patient's prognosis, treatment options, and genetic couns...
What do patients want to know? | After the Diagnosis: Approach to rare disorders | Part 4
Просмотров 342 года назад
When your patient has a genetic mutation causing their CKD, what are the important things to tell them? Dr. Anthony Bleyer is a professor of Internal Medicine and Nephrology at Wake Forest School of Medicine, and leads the rare inherited disease team. In Part 4 of this series, Dr. Bleyer goes over some of patient's prevailing worries regarding the genetic cause of their CKD. Dr. Bleyer discusse...
Expanding the variability of the ADPKD-GANAB clinical phenotype | A case study | Journal club
Просмотров 662 года назад
What mutations can lead to differing presentations within patients with autosomal dominant polycystic kidney disease (ADPKD)? This week, Laurel Kartchner, PhD summarizes a recent article published in the Journal of Nephrology titled "Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry." In this article, Dr. Kartchner discusses typical presentation of ...
The Genetics Report | After the Diagnosis: Approach to rare disorders | Part 3 | Anthony Bleyer
Просмотров 502 года назад
When there is a strong suspicion of genetic underpinnings, but a patient has a negative genetic test result, what should you do next? Dr. Anthony Bleyer is a professor of Internal Medicine and Nephrology at Wake Forest School of Medicine, and leads the rare inherited disease team. In Part 3 of this series, Dr. Bleyer describes some key features that providers should consider when requesting a g...
Reclassification | After the Diagnosis: Approach to rare disorders | Part 2 | Anthony Bleyer
Просмотров 662 года назад
When a patient with a personal or family history of chronic kidney disease (CKD) has a negative genetic test result, what should you do next? Dr. Anthony Bleyer is a professor of Internal Medicine and Nephrology at Wake Forest School of Medicine, and leads the rare inherited disease team. In Part 2 of this series, Dr. Bleyer explains how through international collaboration with other researcher...
The potential of RNA-based therapy for kidney diseases | Journal club | Darbey Raible
Просмотров 1042 года назад
Certified genetic counselor Darbey Raible discusses a recent review article published in Pediatric Nephrology covering RNA-based therapies for kidney disease, with particular focus on inherited kidney disorders. Darbey provides a basic overview of the different types of RNA-based therapeutics, including mRNA-based protein replacement and siRNA and antisense oligonucleotides (ASOs) gene knockdow...
REN | After the Diagnosis: Approach to rare disorders | Part 1 | Case study | Anthony Bleyer
Просмотров 1232 года назад
When a patient with a personal or family history of chronic kidney disease (CKD) has a negative genetic test result, what should you do next? Dr. Anthony Bleyer is a professor of Internal Medicine and Nephrology at Wake Forest School of Medicine, and leads the rare inherited disease team. In Part 1 of this series, Dr. Bleyer describes his experience working with families with rare genetic condi...
Negative Genetics Results in CKD: Part 3 - What to tell the patient? | Natera Academy | Meg Hager
Просмотров 512 года назад
When a patient with a personal or family history of chronic kidney disease (CKD) has a negative genetic test result, what should you do next? In part 3 of this series, Meg Hager, MS, MPH, CGC describes potential approaches to talking with patients after they receive a negative genetic result. Meg describes how negative results may not rule out a clinical diagnosis, how these results reduce the ...
Negative Genetics Results in Kidney Disease: Part 2 - What Next? | Natera Academy | Meg Hager
Просмотров 722 года назад
When a patient with a personal or family history of chronic kidney disease (CKD) has a negative genetic test result, what should you do next? In this video, Meg Hager, MS, MPH, CGC discusses What providers should consider next when a patient's genetic testing result comes back negative. Overall, the provider should consider the utility of a negative test, understand the limitations of genetic t...
Negative Genetics Results in Kidney Disease: Part 1 - The Why | Natera Academy | Meg Hager
Просмотров 3112 года назад
When a patient with a personal or family history of chronic kidney disease (CKD) has a negative genetic test result, what should you do? In this video, Meg Hager, MS, MPH, CGC discusses why a patient with a clinical diagnosis may have a negative genetic test result. It is possible that when a patient has a negative genetic test result, their condition could be unrelated to a genetic cause, have...
TRIM8 | Genetics in Pediatric Kidney Disease: Part 5 | Case Study | Patricia Weng
Просмотров 562 года назад
What syndromes would dictate having a genetic test for renal disease? Dr. Weng, MD is an Associate Professor of Pediatrics and the Interim Director of Pediatric Kidney Transplantation at UCLA discusses a number of cases and the current understanding of use of genetic testing in the pediatric space in this series. In this video, Dr. Weng describes the case of a 4 year-old male with developmental...
Correlation in Genotype and Phenotype | Genetics in Pediatric Kidney Disease: Part 4 | Patricia Weng
Просмотров 1202 года назад
What syndromes would dictate having a genetic test? Dr. Weng, MD is an Associate Professor of Pediatrics and the Interim Director of Pediatric Kidney Transplantation at UCLA discusses a number of cases and the current understanding of use of genetic testing in the pediatric space in this series. In this video, Dr. Weng describes the correlation between genotype and phenotype in autosomal recess...
A Computable Phenotype for Autosomal Dominant Polycystic Kidney Disease | Journal club
Просмотров 642 года назад
A Computable Phenotype for Autosomal Dominant Polycystic Kidney Disease | Journal club
HNF1B | Genetics in Pediatric Kidney Disease: Part 3 | Case Study | Patricia Weng
Просмотров 2122 года назад
HNF1B | Genetics in Pediatric Kidney Disease: Part 3 | Case Study | Patricia Weng
Outcomes of kidney donors with sickle cell trait: A preliminary analysis | Journal club
Просмотров 562 года назад
Outcomes of kidney donors with sickle cell trait: A preliminary analysis | Journal club
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis | Journal club
Просмотров 4352 года назад
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis | Journal club
Alport Syndrome | Genetics in Pediatric Kidney Disease: Part 2 | Case Study | Patricia Weng
Просмотров 1262 года назад
Alport Syndrome | Genetics in Pediatric Kidney Disease: Part 2 | Case Study | Patricia Weng
Guidelines for Genetic Testing and Management of Alport Syndrome | Journal club
Просмотров 1892 года назад
Guidelines for Genetic Testing and Management of Alport Syndrome | Journal club
Alport Syndrome | Genetics in Pediatric Kidney Disease: Part 1 | Case Study | Patricia Weng
Просмотров 882 года назад
Alport Syndrome | Genetics in Pediatric Kidney Disease: Part 1 | Case Study | Patricia Weng
Evidence of LAMA5 Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome | Journal club
Просмотров 582 года назад
Evidence of LAMA5 Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome | Journal club
ESRD and APOL1 | Kidney Disease in the Genomic Era Deep-ish Dive: Part 3 | Case Study | Meyeon Park
Просмотров 632 года назад
ESRD and APOL1 | Kidney Disease in the Genomic Era Deep-ish Dive: Part 3 | Case Study | Meyeon Park
Prenatal diagnosis and outcome of fetal hyperechogenic kidneys and antenatal NGS | Journal club
Просмотров 912 года назад
Prenatal diagnosis and outcome of fetal hyperechogenic kidneys and antenatal NGS | Journal club
Abnormal ADPKD | Kidney Disease in the Genomic Era Deep-ish Dive: Part 2 | Case Study | Meyeon Park
Просмотров 512 года назад
Abnormal ADPKD | Kidney Disease in the Genomic Era Deep-ish Dive: Part 2 | Case Study | Meyeon Park
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study | Journal club
Просмотров 1102 года назад
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study | Journal club
ADPKD | Kidney Disease in the Genomic Era Deep-ish Dive: Part 1 | Case Study | Meyeon Park
Просмотров 1162 года назад
ADPKD | Kidney Disease in the Genomic Era Deep-ish Dive: Part 1 | Case Study | Meyeon Park
“APOL1 Plus” Genotypes in Patients with Chronic Kidney Disease | ASN Abstract
Просмотров 622 года назад
“APOL1 Plus” Genotypes in Patients with Chronic Kidney Disease | ASN Abstract
Family Planning | A Genetics Primer for the Modern Nephrologist | Bianca E Russell
Просмотров 242 года назад
Family Planning | A Genetics Primer for the Modern Nephrologist | Bianca E Russell

Комментарии

  • @MrGaspar206
    @MrGaspar206 2 месяца назад

    Is there cure?

  • @thomasbrown5648
    @thomasbrown5648 8 месяцев назад

    If you have homozygous mutation what are your chances of having alports syndrome

  • @lonelyworld213
    @lonelyworld213 Год назад

    Hello it's Mk we spoke about this its Mandy

  • @Agk677
    @Agk677 Год назад

    Sir any treatment for chronic kidney disease And how can we prevent from genetic kidney prblem

  • @Agk677
    @Agk677 Год назад

    Mam any treatment for chronic kidney disease And how can we prevent from genetic kidney prblem

  • @Agk677
    @Agk677 Год назад

    Sir any treatment for chronic kidney disease ? And how can we prevent from genetic kidney prblem

  • @Agk677
    @Agk677 Год назад

    Sir any treatment for chronic kidney disease And how can we prevent from genetic kidney prblem

  • @Agk677
    @Agk677 Год назад

    Sir any treatment for chronic kidney disease And how can we prevent from genetic kidney prblem

  • @selvim7551
    @selvim7551 2 года назад

    Pls whenyour found kidney recovery treatment to kidney failure patient pls safe my brother pls

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    @SalmanKhan-uf8tl 2 года назад

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  • @cyrus9912
    @cyrus9912 2 года назад

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