News & Media

 Browse the below articles, videos, and podcasts to learn more about the Penn Neurogenetics Therapy Center and the work of our faculty and staff.

 

The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics featuring PNTC Genetic Counselors

Several of our genetic counselors and neurologists recently published a case series illustrating the crucial role of broad genetic testing, such as exome and genome sequencing, in the management of adults with neuromuscular disorders. Read more about how broad genetic testing impacted 5 families seen at Penn Neurology here.

February 2nd, 2024 | Biology


Genetic Counseling: A Lifeline for Patients and Families featuring Laynie Dratch

PNTC’s genetic counselor Laynie Dratch was recently an invited guest on The Reflective Mind Podcast. Laynie shared information about what genetic counselors do, her concerns about what happens when people get genetic test results through direct-to-consumer testing without a genetic counselor to help, and what gives her hope for the future of neurogenetics. Check out the 12/8/2023 episode entitled "Genetic Counseling: A Lifeline for Patients and Families, with Laynie Dratch, ScM CGC" here.

December 8th, 2023 | The Reflective Mind Podcast


 

Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling

Genetic counselors often navigate difficult conversations regarding risk to family members when a genetic cause for a condition is found in the family. One option to reduce the risk of a genetic condition in future generations is called preimplantation genetic testing for monogenic disease (PGT-M). The genetic counselors and two neurologists at the University of Pennsylvania summarized the literature on this topic and shared their insights from discussing this option with families. Their paper “Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling" was recently published in Neurology. Click here to read the abstract.

November 7th, 2023 | Neurology


Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts

The genetics counselors and neurologists at the University of Pennsylvania have collated the literature and their expertise on genetic testing for 10 neurological disorders. For each disorder, they describe the indication and yield of genetic testing, recommended the testing approach, and describe the clinic impact, emphasizing the specific diagnoses that are “actionable” because there are gene-specific therapies or clinical trials. Their paper, “Genetic testing in adults with neurologic disorders: Indications, approach, and clinical impacts,” was just published in the Journal of Neurology. Click here to read the full paper.

October 27th, 2023 | Journal of Neurology


Annals of Clinical and Translational Neurology'

Evidence-based consensus guidelines for ALS genetic testing and counseling

Two of our team members, Laynie Dratch and Lauren Elman, participated in the expert panel that helped solidify new evidence-based consensus guidelines for ALS genetic testing and counseling. Read more here: https://pubmed.ncbi.nlm.nih.gov/37691292/ 

September 10th, 2023 | Annals of Clinical and Translational Neurology


2023 United Leukodystrophy Foundation Family Conference: ALSP presented by Sister's Hope Foundation featuring Dr. Jennifer Orthmann-Murphy and Genetic Counselor Aaron Baldwin

July 27th, 2023 | United Leukodystrophy Foundation


A conversation with a genetic counselor featuring PNTC Genetic Counselor Laynie Dratch

May 9th, 2023 | Empowering Caregivers Workshop


Laynie Remember Me Podcast

What is it like to work with a Genetic Counselor? featuring PNTC Genetic Counselor Laynie Dratch

April 11th, 2023 | Remember Me Podcast


 

Genetic Counselling and Testing Webinar featuring PNTC Genetic Counselor Laynie Dratch

April 11th, 2023 | The International Alliance of ALS/MND Associations


Annals of Neurology

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints

Relevant biomarkers as surrogate endpoints can enable clinic trials in neurogenetic diseases. In a paper just published in the Annals of Neurology, Dr. Scherer and his colleagues make the case that informative biomarkers can and should be used as endpoints in inherited genetic disorders.

March 9th, 2023 | Annals of Neurology


Test tube

Genetic Testing, Genetic Counseling, and Young Onset Parkinson's featuring PNTC Genetic Counselor Rachel Paul

February 10th, 2023 | Davis Phinney Foundation for Parkinson's


 Yoga pose

Solving Medical Mysteries with Genetics: The Penn Neurogenetics Therapy Center

August 30, 2022 | by Kelsey Geesler


Steve and Sara

Blazing the Way for Next Generation Gene and Molecular Therapies

February 24, 2022 | by Kelsey Geesler


Opportunity Brings Hope

The significance of FTD genetic confirmation featuring PNTC Genetic Counselor Laynie Dratch

October 25th, 2021 | Rare Revolution Magazine


Pedro

Neurogenetics Team Forms with "Tsunami" of Breakthroughs Looming

January 7, 2020 | Penn Medicine Neuroscience Blog


 Zebra up-close

In Neurogenetics, Hoofbeats Mean Zebras, Not Horses

September 19, 2019 | by Hannah Messinger