Medical genetics

Study Demonstrating Role of IdeS in Enabling of Gene Therapy in the Presence of Neutralizing Anti-AAV Antibodies Published in Nature Medicine

Monday, June 1, 2020 - 4:00pm

One of the main challenges associated with AAV-mediated gene therapy is neutralizing antibodies that can impact the ability to administer gene therapy, saidFederico Mingozzi, Ph.D., chief scientific officer atSpark Therapeutics.

Key Points: 
  • One of the main challenges associated with AAV-mediated gene therapy is neutralizing antibodies that can impact the ability to administer gene therapy, saidFederico Mingozzi, Ph.D., chief scientific officer atSpark Therapeutics.
  • AAV-mediated gene therapy allows for the treatment of a growing number of diseases in patients today, however the presence of neutralizing anti-AAV antibodies can lead to limitations of this technology.
  • Furthermore, administration of AAV vectors systematically induces a neutralizing anti-AAV immune response, making gene therapy inefficient upon subsequent injections of AAV vectors.
  • Spark will assess and investigate the potential impact of the IdeS technology on its current gene therapy programs and potential applications in the future.

Convenient Spit Test Helps Women Assess Cancer Risk From The Comfort Of Their Own Homes

Monday, June 1, 2020 - 2:00pm

It is the first large, randomized study to assess different combinations of remote pre- and post-test genetic counseling for cancer risk.

Key Points: 
  • It is the first large, randomized study to assess different combinations of remote pre- and post-test genetic counseling for cancer risk.
  • "Better understanding your risk of ovarian cancer is one of the most important things a woman can do to empower herself against the disease.
  • In every group, women watched an educational video on genetic testing for cancer risk before completing their test.
  • "These trial results are not only tangible but empowering for women with inherited risk for ovarian cancer," said Melissa Aucoin, CEO of the National Ovarian Cancer Coalition.

Personalis, Inc. Announces New Data to be Presented at ASCO Virtual Scientific Meeting

Friday, May 29, 2020 - 4:08pm

Personalis, Inc. is a growing cancer genomics company transforming the development of next-generation therapies by providing more comprehensive molecular data about each patients cancer and immune response.

Key Points: 
  • Personalis, Inc. is a growing cancer genomics company transforming the development of next-generation therapies by providing more comprehensive molecular data about each patients cancer and immune response.
  • Personalis also provides genomic information to the VA Million Veterans Program as part of their goal to sequence over a million veteran genomes.
  • The Personalis Clinical Laboratory is GxP-aligned as well as CLIA88-certified and CAP-accredited.
  • For example, forward-looking statements include statements regarding the future availability, features or potential uses of the ImmunoID NeXT Platform or NeXT Dx Test and other future events.

Myriad Presents New Data at ASCO Validating the Ability of riskScore® to Provide Personalized Breast Cancer Risk Information to Patients

Friday, May 29, 2020 - 12:05pm

Follow Myriad on Twitter via @myriadgenetics and keep up to date with ASCO meeting news and updates by using the #ASCO20 hashtag.

Key Points: 
  • Follow Myriad on Twitter via @myriadgenetics and keep up to date with ASCO meeting news and updates by using the #ASCO20 hashtag.
  • These patients were used to develop a mathematical model to assess risk status using family history information and Myriads riskScore test.
  • riskScore helps to further predict a womens lifetime risk of developing breast cancer using clinical risk factors and genetic-markers throughout the genome.
  • This data is then combined with a best-in-class family and personal history algorithm, the Tyrer-Cuzick model, to provide every patient with individualized breast cancer risk.

Prevail Therapeutics to Present at The Jefferies Virtual Global Healthcare Conference

Tuesday, May 26, 2020 - 9:01pm

NEW YORK, May 26, 2020 (GLOBE NEWSWIRE) -- Prevail Therapeutics Inc. (Nasdaq: PRVL) (Prevail or the Company), a biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases, today announced that Asa Abeliovich, M.D., Ph.D., Founder and Chief Executive Officer, will present a company overview at the upcoming Jefferies Virtual Global Healthcare Conference on Tuesday, June 2, 2020 at 3:30 p.m.

Key Points: 
  • NEW YORK, May 26, 2020 (GLOBE NEWSWIRE) -- Prevail Therapeutics Inc. (Nasdaq: PRVL) (Prevail or the Company), a biotechnology company developing potentially disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases, today announced that Asa Abeliovich, M.D., Ph.D., Founder and Chief Executive Officer, will present a company overview at the upcoming Jefferies Virtual Global Healthcare Conference on Tuesday, June 2, 2020 at 3:30 p.m.
  • A live webcast of the presentation will be available under Events and Presentations in the Investors & Media section of the company's website, www.prevailtherapeutics.com .
  • Prevail is a gene therapy company leveraging breakthroughs in human genetics with the goal of developing and commercializing disease-modifying AAV-based gene therapies for patients with neurodegenerative diseases.
  • Prevail was founded by Dr. Asa Abeliovich in 2017, through a collaborative effort with The Silverstein Foundation for Parkinsons with GBA and OrbiMed, and is headquartered in New York, NY.

KCNT1 Epilepsy Foundation, LunaPBC, and Genetic Alliance to Launch Patient-Led Discovery Program

Tuesday, May 26, 2020 - 4:00pm

SAN DIEGO and WASHINGTON, May 26, 2020 /PRNewswire/ -- The KCNT1 Epilepsy Foundation , LunaPBC , and Genetic Alliance today announced a program to assemble a patient-led drug discovery community to study disease etiology and develop therapeutic interventions for patients with KCNT1-related epilepsy.

Key Points: 
  • SAN DIEGO and WASHINGTON, May 26, 2020 /PRNewswire/ -- The KCNT1 Epilepsy Foundation , LunaPBC , and Genetic Alliance today announced a program to assemble a patient-led drug discovery community to study disease etiology and develop therapeutic interventions for patients with KCNT1-related epilepsy.
  • Fifteen years later, KCNT1 gene mutations were identified as the major disease-causing gene of this condition.
  • The program is focused on reshaping the role and experience of study participants by inviting patients and advocates as partners to help with program inception.
  • The KCNT1 Epilepsy Foundation aims to provide accurate information for parents and physicians about KCNT1 Epilepsy disease mechanisms, symptoms and treatment options.

Novagen Is Proud to Offer Top DNA Testing Services for The People of Vietnam

Tuesday, May 26, 2020 - 3:00pm

DNA testing is the process of verifying a blood relationship between two people by comparing specific DNA markers in each person's genome.

Key Points: 
  • DNA testing is the process of verifying a blood relationship between two people by comparing specific DNA markers in each person's genome.
  • Novagen is offering DNA testing services that focus on gene identification services, DNA testing, prenatal DNA testing, genetic testing and NIPT noninvasive prenatal screening.
  • The Novagen testing laboratory is meeting the ISO 9001: 2015 standard and is the first company to apply 27 loci testing technology in DNA testing.
  • Customers of Novagen can access various types of testing and services such as DNA tests for father and son, DNA test for the birth certificate, DNA tests for illegitimate son, prenatal DNA test, non-invasive fetal DNA test , DNA tests for mother and children, DNA testing for Bowel DNA, DNA tests for grandparents and grandchildren, DNA tests for relatives, screening for non-invasive birth defects, sequencing of new generation NGS gene.

Rocket Pharmaceuticals Announces Participation at the Jefferies Virtual Healthcare Conference

Tuesday, May 26, 2020 - 12:00pm

A replay of the presentation will be archived on the Rocket website following the conference.

Key Points: 
  • A replay of the presentation will be archived on the Rocket website following the conference.
  • Rocket Pharmaceuticals, Inc. (NASDAQ: RCKT) (Rocket) is advancing an integrated and sustainable pipeline of genetic therapies that correct the root cause of complex and rare disorders.
  • The companys platform-agnostic approach enables it to design the best therapy for each indication, creating potentially transformative options for patients afflicted with rare genetic diseases.
  • Rockets first clinical program using adeno-associated virus (AAV)-based gene therapy is for Danon disease, a devastating, pediatric heart failure condition.

NorthShore provides real time genomic decision support to 10,000 patients using the ActX Service

Thursday, May 21, 2020 - 11:00am

In 2016, they implemented ActX Genomic Decision Support inside Epic.

Key Points: 
  • In 2016, they implemented ActX Genomic Decision Support inside Epic.
  • NorthShore has taken an additional 10,000 patients through genetic testing as part of the DNA-10K initiative.
  • Our service helps physicians make better decisions about medical treatment, using a patient's genetic information to guide therapy.
  • The ActX Genomic Service offers proven, tightly integrated, real-time genomic decision support for medication orders and actionable genomic risks, a built in patient Genomic Profile, and the ability to fully customize content.

Volpara Solutions Signs Collaboration Agreement with Ambry Genetics

Wednesday, May 20, 2020 - 1:00pm

WELLINGTON, New Zealand, May 20, 2020 /PRNewswire/ --Volpara Health Technologies announced today that its subsidiary company, Volpara Solutions , has signed a collaboration agreement with Ambry Genetics , one of the world's leading genetic testing companies.

Key Points: 
  • WELLINGTON, New Zealand, May 20, 2020 /PRNewswire/ --Volpara Health Technologies announced today that its subsidiary company, Volpara Solutions , has signed a collaboration agreement with Ambry Genetics , one of the world's leading genetic testing companies.
  • Ambry Genetics, part of Konica Minolta Precision Medicine, developed the CARE (Comprehensive, Assessment, Risk, and Education) Program.
  • Ambry and Volpara are collaborating to incorporate CARE with Volpara's cancer screening platform to automate the workflow by creating an online ordering process for genetic testing within the AspenBreast practice management software.
  • Our partnership with Ambry will allow us to offer additional value to our customers to ensure the right patients get the right testing at the right time," said Ralph Highnam, Ph.D., Volpara Solutions CEO.