Early signs of Genetic Disorders
Expert session Question & Answers

Do the chronic genetic disorders like Diabetes, calcium deficiency, psoriasis, cancer etc. pass to the next generation easily?

Genetic disorders are inherited in different ways. Some are due to mutations in parents and some are de novo. Or new variants. They are multifactorial. That means not just genes but lifestyle factors contribute in developing disease or phenotype. 

If you have a family history of diabetes and you are not careful of diet and your body composition is such that it increases sugar then you develop diabetes. Conversely it’s not necessary to have a gene that is defective.

Autoimmune diseases, do they get passed on? Is there any testing available at a young age to check that?

Yes, some are. But some like SLE are multifactorial. You can get testing.

How about AdHd in kids, it's genetic right?

ADHD is caused due to variants. Not all are pathogenic.

Can you please elaborate on the meaning of variants and not pathogenic?

Variant means. C+a+t = Cat. It has set meaning. A variant is when t+c+a. Then it doesn’t have meaning and if it’s pathogenic it causes disease.

Could you please tell us about some genetic diseases occurring in children?

Genetic diseases which are inherited are Thalassemia, Muscular dystrophy, Galactosemia – metabolic errors, Some eye conditions, Some cancer conditions.

A variant if not in order indicates it's a disease right?

A variant is never interpreted as solitary. The family must have affected people showing disease or there must be strong literature evidence showing it causes disease in individuals studied across the world

What about Autism? Is it related to genes?

Autism is sometimes caused by variants as well. But their pathogenicity is determined by what we see in the individual.

Can brain related disorders be genetic? I mean Schizophrenia, Dementia, Alzheimer's

They are multifactorial disorders. Not always genetic . Dementia is caused by degenerative changes in the brain. Sometimes Down’s syndrome may be genetic.

It is important to pick up early signs during pregnancy and when the baby is born. Nowadays tests are done in pregnancy also to know about the risk of few genetic conditions in the baby like Downs syndrome. If you have a family history it is important to let your doctor know so that testing is done in pregnancy itself. When a baby is born it can be screened for some metabolic errors which cause lifelong disability.

Can you tell the general names of the disorders you mentioned?

Thalassemia- bleeding will not stop if baby falls

Muscular dystrophy – child won’t walk properly, can’t climb stairs

Metabolic errors – sick baby, frequent hospitalisations

As parents you can track developmental milestones. Speech, language development, hearing, sight, grasp, these are all early signs. If the child has vision difficulty, frequent diarrhea or vomiting or altered urine colour and smell sometimes are early signs.

My son has been diagnosed with global developmental delayed milestones and infantile spasms at 10 months, he also has partial deletion of 11p14.1 Chromosome. Kindly let me know it's significance as doctors back in the UK have not concluded on its significance. Sending you the reports below of my son.

They have written that the significance is not known. That means literature evidence is less. So give your and husband’s samples. It will help with diagnosis to know if it’s inherited or de novo (new). I would suggest further tests also for him. But let’s do that separately not on WhatsApp.

Can Budd chiari also be detected now?


I have a son who has Budd chairi. He is alright now. We are planning to adopt a girl because financially, physically and emotionally it has drained us. What is your opinion about adoption and also what tests can be performed to rule out at least known diseases?

You can google me and visit. I’ll do genetic counseling for you both and suggest.

Would you be able to let me know what is 11p14. 1 chromosome related to. Can it be cured at an early age. My son is 3 years old now.

There is no cure for it. The area of the short arm of chromosome 11 at 14.1 has genes  KIF18A, METTL15. There is a defect there.

Could you elaborate on what is this defect related to, like what syndrome?

It’s not syndrome. The function of genes gets compromised. But more detailed study will help to better understand.

My baby was born with hole in the heart. This has anything to do with genes?

Yes, sometimes. And sometimes it is caused by a deficiency like vitamin deficiency.

My mother in law had cancer. Also my husband's maternal uncle also died of cancer. Any precautions for the next generation - that is my kids?

For precautions you can ask your oncologist. Cancer is a multifactorial disease. If you want to know if your child is predisposed then you have to first do testing for those affected. But I strongly advise genetic counseling before doing any genetic testing for your child. It has an impact for everyone.

So I understand that if the gene gets compromised it cannot be treated. Also there has not been any such family history in both our families and we are not related. So when I asked my son's neuro, he said it could be due to genetic mutation.

Correct. Gene gets mutated in different ways and causes problems

Can genetic mutation cases be treated, they can't be cured completely (I am aware)?

You cannot cure mutations. You can only treat the symptoms (problems) of that disease as they manifest

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Dr. Manisha Doiphode.
Dr. Manisha Doiphode – Early signs of Genetic Disorders

Dr. Manisha Doiphode –  Early signs of Genetic Disorders

Dr. Manisha Doiphode is a clinical Geneticist and fetal medicine consultant. She has done her post-graduation from University College London. She has been practising in PCMC from the last 15 years. She does genetic counseling and procedures like amniocentesis. She has the distinction of establishing PCMC’s first standalone genetic clinic & genetic Laboratory. Till date she has managed 10000 patients. Her expertise is diagnosis & management of genetic disorders and management of couples before conception.

The Sessions

Dr. Manisha Doiphode – Early signs of Genetic Disorders will be the topic where he will be taking the session at upcoming 5To15 event.