AI identifies gene interactions to speed up search for treatment targets
In this episode:00:46 An AI that predicts gene interactionsMapping the network of genes that control cellular processes can be difficult to do when gene-expression data is sparse, such as in rare diseases or those affecting tissues that are hard to clinically sample. To overcome this, a team has developed an artificial intelligence system trained on a large, general dataset, and used it to make predictions about gene interactions in data-limited situations. As a test-case they look at the heart condition cardiomyopathy, and show that the system can identify potential interactions that could represent new therapeutic target...
Source: Nature Podcast - May 31, 2023 Category: Science Authors: Springer Nature Limited Source Type: podcasts

A controversial dam in the Amazon unites Indigenous people and scientists, and transplanting mitochondria to treat rare diseases
Keeping an eye on the largest hydroelectric project in the Amazon basin, and helping patients with deletions in their mitochondrial DNA We are starting off the new year with producer Kevin McLean and freelance science journalist Sofia Moutinho. They discuss a controversial dam in the Brazilian Amazon and how Indigenous peoples and researchers are trying to monitor its impact. Then, host Sarah Crespi speaks with Elad Jacoby, an expert in pediatric hematology and oncology at the Sheba Medical Center and Tel Aviv University, about the many wonders of mitochondria. In a recent Science Translational Medicine paper, his team t...
Source: Science Magazine Podcast - January 5, 2023 Category: Science Authors: Science Magazine Source Type: podcasts

A controversial dam in the Amazon unites Indigenous people and scientists, and transplanting mitochondria to treat rare diseases
Keeping an eye on the largest hydroelectric project in the Amazon basin, and helping patients with deletions in their mitochondrial DNA We are starting off the new year with producer Kevin McLean and freelance science journalist Sofia Moutinho. They discuss a controversial dam in the Brazilian Amazon and how Indigenous peoples and researchers are trying to monitor its impact. Then, host Sarah Crespi speaks with Elad Jacoby, an expert in pediatric hematology and oncology at the Sheba Medical Center and Tel Aviv University, about the many wonders of mitochondria. In a recent Science Translational Medicine paper, his team t...
Source: Science Magazine Podcast - January 5, 2023 Category: Science Authors: Science Magazine Source Type: podcasts

Cannabis and cannabinoids for people with multiple sclerosis
In May 2022, the Cochrane Multiple Sclerosis and Rare Diseases of the CNS Group published a new review of the effects of cannabis and cannabinoids for the treatment of people with multiple sclerosis. In this podcast, Silvia Minozzi, Co-ordinating Editor of the Cochrane Drugs and Alcohol Group and an author on the review talks with lead author and Co-ordinating Editor of the Cochrane Multiple Sclerosis Group, Graziella Filippini, about the review. (Source: Podcasts from The Cochrane Library)
Source: Podcasts from The Cochrane Library - August 25, 2022 Category: General Medicine Authors: Cochrane Source Type: podcasts

Podcast Extra: The search for a rare disease treatment
Nick Sireau’s sons have a rare genetic disease called alkaptonuria, which can lead to body tissues becoming brittle, causing life long health issues.In this Podcast Extra, Geoff Marsh speaks to Nick and to the physician Dr Lakshminarayan Ranganath about their search for a treatment for alkaptonuria. For information regarding your data privacy, visit acast.com/privacy (Source: Nature Podcast)
Source: Nature Podcast - January 11, 2019 Category: Science Authors: Springer Nature Limited Source Type: podcasts

Podcast Extra: The search for a rare disease treatment
Nick Sireau ’s sons have a rare genetic disease called alkaptonuria, which can lead to body tissues becoming brittle, causing life long health issues.In this Podcast Extra, Geoff Marsh speaks to Nick and to the physician Dr Lakshminarayan Ranganath about their search for a treatment for alkaptonuria. (Source: Nature Podcast)
Source: Nature Podcast - January 11, 2019 Category: Science Authors: Springer Nature Limited Source Type: podcasts

Podcast Extra: The search for a rare disease treatment
Nick Sireau’s sons have a rare genetic disease called alkaptonuria, which can lead to body tissues becoming brittle, causing life long health issues.In this Podcast Extra, Geoff Marsh speaks to Nick and to the physician Dr Lakshminarayan Ranganath about their search for a treatment for alkaptonuria. See acast.com/privacy for privacy and opt-out information. (Source: Nature Podcast)
Source: Nature Podcast - January 11, 2019 Category: Science Authors: Springer Nature Limited Source Type: podcasts

Challenges in diagnosing and treating CTCL
With cutaneous T-cell lymphoma (CTCL) being a rare disease with an incredibly high prevalence, Pierluigi Porcu, MD, from Sidney Kimmel Cancer Center, Philadelphia, PA, describes the challenges of CTCL... Author: VJHemOnc Added: 09/28/2018 (Source: Oncology Tube)
Source: Oncology Tube - September 28, 2018 Category: Cancer & Oncology Source Type: podcasts

Waldenstrom Macroglobulinemia is Rare Disease Results of study are the most clinically relevant
Dr. Meletios A. Dimopoulos, MD, National and Kapodistrian University of Athens, explains Waldenstrom Macroglobulinemia is Rare Disease Results of study are the most clinically relevant at ASCO 2018 Author: Annual-Meeting Added: 06/04/2018 (Source: Oncology Tube)
Source: Oncology Tube - June 4, 2018 Category: Cancer & Oncology Source Type: podcasts

Cancer Care for Pediatctrics and Young Adults
Elaine R. Mardis, PhD, The Institute for Genomic Medicine, talks Cancer Care for Pediatctrics and Young Adults Rare diseases in this subset patient population at AACR 2018 Author: Cancer-News Added: 06/01/2018 (Source: Oncology Tube)
Source: Oncology Tube - June 1, 2018 Category: Cancer & Oncology Source Type: podcasts

The 100,000 Genomes Project: an update
The 100,000 Genomes Project is an exciting NHS programme, which aims to sequence 100,000 genomes from patients with rare diseases and their families, as well as patients with cancer. In this interview... Author: VJHemOnc Added: 01/30/2018 (Source: Oncology Tube)
Source: Oncology Tube - January 30, 2018 Category: Cancer & Oncology Source Type: podcasts

Diagnosis, classification and treatment of systemic mastocytosis
Systemic mastocytosis, though a rare disease, is more common than clinicians may think and diagnosis of the condition can often be missed. In this insightful interview, Deepti Radia, MBBS, MRCPI, FRCP... Author: VJHemOnc Added: 12/05/2017 (Source: Oncology Tube)
Source: Oncology Tube - December 5, 2017 Category: Cancer & Oncology Source Type: podcasts

Newborn Screening for Rare Diseases
A parent ' s story with two different outcomes illustrates why newborn screening is so important in the early diagnosis and treatment of rare disorders. (Source: Medscape Pediatrics Podcast)
Source: Medscape Pediatrics Podcast - February 27, 2017 Category: Pediatrics Authors: Medscape Source Type: podcasts

Rare Diseases -- Not Just for Geneticists Anymore
Drs Summar and Saul discuss gaps in education for all clinicians, as pediatric and other rare disease patients live longer, transition to adulthood, and rewrite natural histories of their diseases. (Source: Medscape Pediatrics Podcast)
Source: Medscape Pediatrics Podcast - February 24, 2016 Category: Pediatrics Authors: Medscape Source Type: podcasts