Dr Ashka Prajapati, Clinical Geneticist

08/05/2022

Today is 8th May 'World Thalassemia Day'

Why Thalasseamia screening is important before marriage?

-- About 3.9 % of India’s population is a carrier for thalassemia.
More than 10,000 thalassemic children born every year in India.

--Thalasseamia carriers are unknowingly passing on the genetic disorder to their children.

--To reduce the burden of highly prevalent monogenic disorders, it is essential that disease progression is halted at the carrier stage.
--When two such thalassaemia carriers marry and plan to have children there is a one-in-four chance of having a thalassaemic baby at every conception.

--A simple blood test for thalassaemia before marriage will let couples know if they are carriers or not.

--if both are non-carriers, they need not worry. But if both are carriers, they may need to go for a test called amniocentesis after the 12 weeks of pregnancy to detect if the child is affected or not.

18/03/2022

28/02/2022

Today is The "World Rare Disease Day"

There are more than 7000 rare diseases..
72% of Rare diseases are Genetic in origin.

70 % are children; sadder still, most of them die before their fifth birthday due to lack of medical intervention.
Only 5 % diseases have FDA approved treatment

The scenario worsens due to lack of early diagnosis along with expensive treatment options, pose major hurdles in rare disease management..

The main objective to raise awareness among general public and decision makers about rare diseases and their impact on patient's lives..

28/02/2022

Today is WORLD RARE DISEASE DAY
There are More than 7000 Rare diseases..
72% are Genetic in origin..
70% are children most of them die before their fifth Birthday
Only 5% diseases have FDA approved treatments
Lack of early diagnosis with expensive treatments pose major hurdle in rare diseases management..

28/01/2022

https://www.xperteaseinlsds.com/

Link to join webinar for Gaucher disease

29/02/2020

Today is a
𝗪𝗼𝗿𝗹𝗱 𝗥𝗮𝗿𝗲 𝗗𝗶𝘀𝗲𝗮𝘀𝗲 𝗗𝗮𝘆.. There are over 300 million people worldwide living with a rare disease.
72% of rare diseases are genetic and 70% of those genetic rare diseases start in childhood.
Average time to diagnose this diseases takes 7-8 years.
It is a need for indentifying undiagnosed, early referral to experts and considering advanced test, which can help to explain true prevalence of diseases and access to
𝐚𝐯𝐚𝐢𝐥𝐚𝐛𝐥𝐞 𝐭𝐫𝐞𝐚𝐭𝐦𝐞𝐧𝐭𝐬…

18/12/2019

*Approval of Vyondys53 by US droug administration FDA*

Another targeted therapy approved for Duchenne muscular dystrophy. It covers 8 percent of total mutation of DMD where previously approved exondys51 covers 13 percent of mutation.

However cost and availability is the main hurdle for access of such therapy in country like India but early diagnosis and molecular diagnosis for the purpose of knowing mutation amneble to treatment should be considered so that they can get benifited in future when therapy is accessible..

It's unclear what led the FDA to change its mind. Sarepta said it filed an appeal with the FDA and eventually resolved the agency's outstanding concerns.

17/10/2019

October is month of awareness for Breast cancer

Genetics and Breast Cancer

· Do you know Breast cancer is hereditary? (passing through family?)

Here is some easy understanding for importance of Genetic evaluation for Hereditary Breast cancer


# Which are the Genes associated with breast cancer?

BRCA1 , BRCA2 , TP53 , PTEN , STK11 , CDH1, ATM and many other genes

Ø The risks of breast cancer are increased in women who have inherited mutations in these genes.

. Who should consider Genetic analysis of these genes?

Ø Breast cancer before the age of 50 years

Ø Different types of cancer in same person

Ø Cancer both organs of a set of paired organs (e.g., both kidneys, both breasts)

Ø Several close blood relatives that have the same type of cancer


Why should get genetic analysis?

Ø To know your risk of developing cancer

Ø To identify the one with high risk

Ø To start screening and surveillance

Ø To give treatment options like surgery to reduce risk

Ø To initiate target based treatment

Ø Early diagnosis and and increases chances of successful treatment and survival

27/05/2019

A new milestone in research for curative therapy of Genetic disorders..

Gene therapy for spinal muscular atrophy ( A Genetic disorder where muscle gets progressively weak) is about to get FDA approval..

However cost of the therapy is a big obstacle for access to treatment.

More awareness and Early diagnosis can increase prevalence and demand of the drug might reduce cost in future..

Known as Zolgensma, the gene therapy treats children under two years of age with spinal muscular atrophy, an inherited neuromuscular disease.

08/05/2019

Today is 8th May 'World Thalassemia Day'

Why Thalasseamia screening is important before marriage?

-- About 3.9 % of India’s population is a carrier for thalassemia.
More than 10,000 thalassemic children born every year in India.

--Thalasseamia carriers are unknowingly passing on the genetic disorder to their children.

--To reduce the burden of highly prevalent monogenic disorders, it is essential that disease progression is halted at the carrier stage.
--When two such thalassaemia carriers marry and plan to have children there is a one-in-four chance of having a thalassaemic baby at every conception.

--A simple blood test for thalassaemia before marriage will let couples know if they are carriers or not.

--if both are non-carriers, they need not worry. But if both are carriers, they may either decide not to have any children or go for a test called amniocentesis within the first 12 weeks of pregnancy to detect if the child is affected or not.