HNF & Kenneth Raymond Join Forces to Clarify CMT Genetic Reports

by | Jun 13, 2023 | 0 comments

Since the launch of HNF’s CMT Genie last August, over 200 individuals have participated in hopes of receiving a genetic confirmation of their CMT symptoms. Although many have found a definitive diagnosis, many others have received their results as a variant of uncertain significance (VUS).“This is very common with a complex disease like CMT,” says genetic expert Kenneth Raymond who has been studying and publishing CMT genetic data for over 20 years

What are Variants of Uncertain Significance (VUS)?

They are changes in a gene’s DNA sequence that have an unknown effect on a person’s health. There is usually not enough information about a VUS to know whether it increases a person’s risk of developing a disease.

Getting a VUS can be extremely frustrating for anyone already struggling through the difficult process of seeking answers about CMT and adequate medical care.

How does Kenneth Raymond review VUS reports?

Patients who already have a genetic report can upload them into their profile in HNF’s Global Registry, GRIN (JoinGRIN.org). If they have not yet joined, they can create an account (demo video: Click here!) and upload their PDF or JPEG. Those who have not yet had genetic testing they can book a CMT Genie call with the HNF team and get connected with a virtual genetic counselor and in home testing.

How do Genetic Reports Drive CMT Research?

Not only do genetic reports support patient care and diagnosis, but they also play a key role in CMT research by correlating a patient’s genotype (genetics) with their phenotype (symptoms). This allows HNF to show real-world prevalence and occurrence rates, which are vital for biotech and industry, as presented in the recent webinar “Making Sense & Science of CMT Symptoms” (Click here!).

From HNF CEO & Founder, Allison Moore “Kenny will lead the development of the “right data” curation form to be added to the Matrix-GRIN platform for the curation of patient genetic report records. He will transcribe the pertinent data from each GRIN participant that provided a report. Kenny is an ideal candidate for this position as he has working knowledge and experience reading CMT genetic testing results, as well as the over 100 genes associated with CMT. We are thrilled to have him on board as a passionate, knowledgeable, and valuable member of the HNF team.” — Allison Moore

 

 

Learn more on this topic

Related Blog Posts

The Key Role CMT Patients Play in Research

The Key Role CMT Patients Play in Research

Without your participation, researchers won’t have the essential patient information to develop drugs, gene therapies, and clinical trials for Charcot-Marie-Tooth and other Inherited Neuropathies. In addition, as GRIN grows, we gain greater insights from you as patients to help accelerate therapies for Charcot-Marie-Tooth (CMT) and Inherited Neuropathies.

Join the conversation

Leave a Comment

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

Newsletter

Join for notifications on events, campaigns, & news