BFM 89.9

HIGHLIGHTS 
Podcast  >  Bigger Picture  >  Health & Living  >  Brain Waves: Identifying Rare Disease Genes

Brain Waves: Identifying Rare Disease Genes

Dr Azlina Ahmad Annuar, Neurogeneticist

07-Mar-22 16:00

Brain Waves: Identifying Rare Disease Genes

While rare diseases are rare, there are around 10,000 different types of rare diseases and collectively this affects a large number of people. With more than 80% of these rare diseases having underlying genetic causes, it’s especially important to identify these genetic factors to tailor therapies and treatments to the people living with distinct disorders. And yet, it’s not uncommon to hear about the “diagnostic odyssey” that many in the rare disease community go through just to get a definite diagnosis. Neurogeneticist Dr Azlina Ahmad Annuar shares just how far we’ve come in identifying these genetic causes of rare diseases and how far more we have to go to make diagnoses of rare diseases easier.

Image credit: Shutterstock

Produced by: Lim Sue Ann

Presented by: Lim Sue Ann


This and more than 60,000 other podcasts in your hand. Download the all new BFM mobile app.

Categories:  diseases and conditions

Tags:  whole genome sequencingthe bigger picturehealth and livingneurosciencegeneticsrare diseasegenes





Play / Pause

Listen now : The Selector: Covering all styles of music from indie, dubstep, folk, soul,...

Today’s Shows



6:00 AM

The 6AM Stretch

Thought-provoking discussions on ideas, people and events shaping our lives.

7:00 AM

World Market Watch

Tim Mulholland, President, TJM Limited, Chicago, tells us where international markets are heading.

7:15 AM

Morning Brief

We recap global and local headlines from today's papers and portals.

7:30 AM

Morning Brief

Kathleen Chen, Associate Director of Asia-Pacific Sovereigns, Fitch Ratings on impact to Malaysia's fiscal position post populist measures.

7:45 AM

Morning Brief

Datuk Shamsuddin Bardan of the Malaysian Employers Federation weighs in on how the designation of September 15th as a public holiday may disrupt businesses.

8:00 AM

The Breakfast Grille

Megat Zariman, President of Velesto Energy Berhad, shares his outlook on the oil and gas industry.

8:30 AM

Morning Brief

Faisal Aziz, Bersih Chairman joins us to discuss our civil liberties when it comes to peaceful assemblies.

8:45 AM

Morning Brief

Dr. Surachanee Sriyai of ISEAS–Yusof Ishak Institute discusses the root causes driving scam centre operations and explores potential policy solutions.

9:00 AM

Opening Bell

(REPEAT) Tim Mulholland, President, TJM Limited, Chicago, tells us where international markets are heading.

9:15 AM

Opening Bell

(REPEAT) We take a look at the FBM KLCI as well as regional capital markets.

9:35 AM

What's The Focus

We wrap up the week’s biggest conversations to keep you in the know.

10:05 AM

Open For Business

Pure Mylk’s Marcus Khoo on the tech behind clean-label plant-based drinks, filling Malaysia’s food-tech gaps, and why The Mylky Way may be Southeast Asia’s next innovation hub for sustainable F&B.

11:00 AM

Mattsplained

Matt Armitage, Founder, Kulturpop

12:00 PM

Enterprise Explores

CyberArk’s Serene Lee on machine identity breaches, AI-powered threats, and why human-centric security strategies are no longer enough.

1:00 PM

The Breakfast Grille Repeat

Megat Zariman, President of Velesto Energy Berhad, shares his outlook on the oil and gas industry.

2:05 PM

Discovery Hour

3:05 PM

Front Row

Material scientist Lyne Ismail, trained in chemistry and nanotechnology, presents "Cat Town: Energy, Matter, and the Art of Becoming," a solo exhibition exploring energy, matter, and abstraction.

3:20 PM

Front Row

Singer Janet Lee marks two decades on stage with "Lucky Lee - The 20-Year Journey On Stage," a theatrical concert experience. She's joined by musical collaborator Tay Cher Siang to discuss her career, from Taiping to sold-out stages nationwide.

4:05 PM

Health & Living

Are the increasingly popular ceramic cookware actually “non-toxic”? We look at what they’re made of and what are the effects in the human body.

5:00 PM

Top 5 at 5

6:00 PM

Popcorn Culture

A review of The Fantastic Four’s arrival in the MCU, followed by a discussion about characters that have been played by different actors.

7:00 PM

BBC World Service

This week on Science in Action, scientists have detected the largest black hole merger ever observed with LIGO picking up signals from two black holes colliding in a ‘violent’ spacetime event.

8:00 PM

Bar None

We speak to Jeffrey Ross, the General Manager of Fresh Events Asia, ahead of the Redline Fitness Games, happening this weekend.

9:00 PM

The Selector

Covering all styles of music from indie, dubstep, folk, soul, electro and everything in between, from some of the most exciting artists in the UK.