Motherhood is a journey filled with challenges, but every step is worth it for the love and joy it brings. Zoe Hummel joins the show in this special Mother’s Day episode to discuss her son Mostyn’s emotional story to diagnosis, and the unique challenges and triumphs of being a nano-rare mom.

Order your Mother's Day card by May 6, 2024! All proceed support nano-rare patients.

On This Episode We Discuss:

• How Zoe met her Husband, Mostyn’s father
• Zoe’s Violin origins and playing with Rod Stewart
• Mostyn’s journey to a diagnosis
• Zoe’s advice for parents observing abnormalities in their child's development
• Mostyn’s severe epilepsy
• A road trip to Boston Children’s Hospital in the middle of winter
• The ‘unlucky’ diagnosis of KCNB1
• For-profit companies promising false hope

Research physicians and their associated institutions are monumental to the mission of the n-Lorem Foundation and are truly transformational to the lives of the nano-rare patients they treat. Olivia Kim-McManus, M.D., was one of four physician panelists at our first Colloquium who participated in "A Physician's Perspective on n-Lorem and Nano-rare". Hear Olivia's outlook on nano-rare patients and how the support of an institution like UCSD Rady Children’s Hospital makes all the difference.

On This Episode We Discuss:

1:55 When Dr. McManus became interested in pediatric neurology and epilepsy

4:00 What ion channels do and why they play a role in epilepsy

5:17 How often is epilepsy genetically caused?

6:52 Why Dr. McManus and Rady Children’s Hospital choose to invest time and resources in helping nano-rare patients.

11:50 Bringing people together for a single forum at the Nano-rare Patient Colloquium inspires collaboration between groups

14:43 The importance of a network of treating physicians and institutions and sharing experiences and lessons learned

17:58 Interest within Rady Children’s Hospital regarding nano-rare patient treatment and ASOs

21:45 A Physician’s Perspective of Nano-rare and n-Lorem

Genetics can be intricate, no doubt. With millions of mutations present in every human, one might wonder why not everyone is impacted by pathogenic diseases. The Patient Empowerment Program aims to assist you in grasping the fundamental concepts of various mutations and how they function, paving the way for you to enhance your understanding of genetics. Delve into the diverse array of disease-causing mutations, their characteristics, and explore which mutations could potentially be addressed through ASO treatment in this concluding episode of Advanced Genetics.

On This Episode We Discuss:

• The nature of a SNP
• Pre-mature-m-RNA effects
• Indels can disrupt the reading frame
• Defining Alleles, Homozygous, Heterozygous, and Compound Heterozygous
• The difference between whole exome and genome sequencing
• How we, at n-Lorem, decide which patients are amendable to ASO treatments
• How we design ASOs to take advantage of different post-RNA binding mechanisms
• Mechanisms: Non-allele selective RNAse H1, Allele-selective RNAse H1, and Splicing ASOs